A total 2073 pathogenic variants reported in gene partner and localizer of BRCA2 (PALB2)
| Variant Name |
Variant Type |
Variant Genomic Location |
Clinical Significance |
Phenotype Condition |
Review Status |
ClinGen Allele |
dbSNP ID |
Variation/condition record |
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
SNV Germline |
Chr16:23634893 |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA251717 |
rs_118203997 |
13 SubmittersRCV000001302RCV000217204RCV000235772RCV000476387RCV005053882 |
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
SNV Germline |
Chr16:23603471 |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group N Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Inherited breast cancer and ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA151250 |
rs_118203998 |
25 SubmittersRCV000001304RCV000114634RCV000121742RCV000129158RCV000212830RCV001355428RCV004528063RCV005053883RCV005430457RCV005623061 |
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
SNV Germline |
Chr16:23623003 |
Pathogenic |
Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA164468 |
rs_118203999 |
9 SubmittersRCV000001306RCV000129469RCV000662710RCV000657596RCV005053884 |
|
NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys)
|
SNV Germline |
Chr16:23630097 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA279492933 |
rs_267604470 |
8 SubmittersRCV000774635RCV000704434RCV001572169RCV003226185RCV004537269 |
|
NC_000016.10:g.23641315C>G
|
SNV Germline |
Chr16:23641315 |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA269467 |
rs_138200248 |
4 SubmittersRCV000282144RCV000374410RCV001030094RCV000829438 |
|
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)
|
SNV Germline |
Chr16:23635546 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA193504 |
rs_202241382 |
8 SubmittersRCV000165476RCV000402501RCV000483117RCV001087026RCV004595925 |
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
SNV Germline |
Chr16:23635545 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer not specified Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA288383 |
rs_200620434 |
22 SubmittersRCV000114449RCV000116060RCV000212784RCV000415191RCV000781695RCV001798290RCV003483471RCV004529916RCV005359039 |
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
SNV Germline |
Chr16:23635536 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA151212 |
rs_45494092 |
28 SubmittersRCV000114450RCV000121752RCV000127306RCV001116860RCV000755592RCV001354445RCV001798291 |
|
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)
|
SNV Germline |
Chr16:23635519 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA151215 |
rs_180177097 |
10 SubmittersRCV000215551RCV001030193RCV001040014RCV005053906RCV003155912 |
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
SNV Germline |
Chr16:23637951 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA288386 |
rs_202194596 |
14 SubmittersRCV000114460RCV000116061RCV000212768RCV000780571RCV002483177RCV004739369 |
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
SNV Germline |
Chr16:23635401 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA269483 |
rs_515726063 |
11 SubmittersRCV000114461RCV000483203RCV000567033RCV002483178 |
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
SNV Germline |
Chr16:23635352 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group N Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA151219 |
rs_61755173 |
29 SubmittersRCV000114462RCV000127307RCV000212786RCV000327932RCV000588666RCV001170350RCV001357080RCV005234992 |
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
SNV Germline |
Chr16:23641147 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Esophageal atresia/tracheoesophageal fistula Fanconi anemia complementation group N Condition: not provided Breast and/or ovarian cancer PALB2-related disorder Malignant tumor of breast not specified |
Criteria Provided Conflicting Classifications |
CA288392 |
rs_45619737 |
15 SubmittersRCV000116063RCV000114464RCV000515208RCV000590674RCV001798292RCV004739370RCV001358373RCV001797625 |
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
SNV Germline |
Chr16:23635296 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA288398 |
rs_45510998 |
21 SubmittersRCV000114466RCV000116065RCV000590540RCV001255214RCV003483472RCV004739371RCV005394371 |
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
SNV Germline |
Chr16:23641145 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA269492 |
rs_377085677 |
17 SubmittersRCV000114472RCV000116068RCV000589509RCV001818256RCV004739372RCV005359040 |
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
SNV Germline |
Chr16:23635002 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial ovarian cancer Breast and/or ovarian cancer PALB2-related disorder Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA163908 |
rs_515726072 |
19 SubmittersRCV000114479RCV000235723RCV000129175RCV000586359RCV001355376RCV003149776RCV004528789RCV004700413 |
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
SNV Germline |
Chr16:23634913 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Gastric cancer PALB2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA167823 |
rs_180177103 |
14 SubmittersRCV000114484RCV000131237RCV000255843RCV001357967RCV003162529RCV004529917 |
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
SNV Germline |
Chr16:23630455 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA288416 |
rs_370422990 |
18 SubmittersRCV000114495RCV000116072RCV001292820RCV000588850RCV001171429RCV005359042RCV004529918 |
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
SNV Germline |
Chr16:23637865 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Multiple Submitters No Conflicts |
CA187393 |
rs_180177083 |
18 SubmittersRCV000114503RCV000163078RCV000235795RCV000588616RCV001798296RCV005016383 |
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
SNV Germline |
Chr16:23629954 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Malignant tumor of breast Endometrial carcinoma |
Criteria Provided Conflicting Classifications |
CA288435 |
rs_45543843 |
13 SubmittersRCV000114515RCV000116081RCV000586054RCV000855600RCV001356351RCV001358251 |
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
SNV Germline |
Chr16:23629831 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA192039 |
rs_180177111 |
13 SubmittersRCV000114521RCV000164897RCV000413982RCV001355683RCV003155914RCV005053908 |
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
SNV Germline |
Chr16:23636314 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA288441 |
rs_515726085 |
17 SubmittersRCV000114522RCV000116083RCV000212771RCV000587015RCV001356931RCV003149780RCV004529921 |
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
SNV Germline |
Chr16:23629768 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N |
Criteria Provided Multiple Submitters No Conflicts |
CA163823 |
rs_180177112 |
14 SubmittersRCV000114524RCV000129116RCV000236024RCV001781442RCV003330435 |
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
SNV Germline |
Chr16:23641135 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA299799 |
rs_150390726 |
13 SubmittersRCV000114527RCV000160872RCV000589826RCV002225301RCV004529922RCV005359045 |
|
NM_024675.4(PALB2):c.2514+3A>G
|
SNV Germline |
Chr16:23629637 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA269537 |
rs_515726088 |
9 SubmittersRCV000114530RCV000160843RCV000573333RCV005016384RCV003149781RCV005359046 |
|
PALB2:c.2515-1G>T
|
SNV Germline |
Chr16:23629276 |
Pathogenic/Likely pathogenic |
Pancreatic cancer, susceptibility to, 3 Condition: not provided Familial cancer of breast Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA114879 |
rs_587776417 |
7 SubmittersRCV000001312RCV000133479RCV001030317RCV001171466RCV002426654 |
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
SNV Germline |
Chr16:23629231 |
Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA269540 |
rs_180177115 |
12 SubmittersRCV000114536RCV000116088RCV000212813RCV001171467 |
|
NM_024675.4(PALB2):c.2586+10A>G
|
SNV Germline |
Chr16:23629194 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Endometrial carcinoma Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA292645 |
rs_373321719 |
15 SubmittersRCV000114537RCV000127295RCV000588544RCV000580770RCV001118200RCV001358400RCV003149782 |
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
SNV Germline |
Chr16:23626310 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N not specified Familial ovarian cancer Familial cancer of breast Fanconi anemia complementation group N PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA167879 |
rs_45476495 |
22 SubmittersRCV000114549RCV000131257RCV000587708RCV001118198RCV000483553RCV003483473RCV004739374RCV005016385 |
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
SNV Germline |
Chr16:23626266 |
Pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Multiple Submitters No Conflicts |
CA269561 |
rs_180177122 |
14 SubmittersRCV000114552RCV000255170RCV000562748RCV002498481RCV004782240RCV005394374 |
|
NM_024675.4(PALB2):c.2749-18C>T
|
SNV Germline |
Chr16:23624112 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA269568 |
rs_182194007 |
13 SubmittersRCV000114555RCV000127298RCV000212817RCV000679766RCV003149784RCV004764763 |
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
SNV Germline |
Chr16:23624091 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA192533 |
rs_515726094 |
11 SubmittersRCV000114556RCV000165106RCV000478088RCV001171432 |
|
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter)
|
SNV Germline |
Chr16:23624082 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA269569 |
rs_180177124 |
4 SubmittersRCV001030342RCV003162530 |
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
SNV Germline |
Chr16:23624070 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA164110 |
rs_180177125 |
13 SubmittersRCV000114558RCV000129279RCV000764047RCV000235847RCV001798299 |
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
SNV Germline |
Chr16:23624027 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N not specified Malignant tumor of breast Condition: not provided PALB2-related disorder Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA151239 |
rs_45478192 |
34 SubmittersRCV000114561RCV000116092RCV000306515RCV000417395RCV001356702RCV000586156RCV004528790RCV001170349RCV004760375 |
|
NM_024675.4(PALB2):c.2835-1G>C
|
SNV Germline |
Chr16:23623131 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Multiple Submitters No Conflicts |
CA331795 |
rs_515726099 |
9 SubmittersRCV000114567RCV000220116RCV001171468RCV004589552RCV005016386 |
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
SNV Germline |
Chr16:23623114 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA161355 |
rs_149522412 |
21 SubmittersRCV000121763RCV000129725RCV001030355RCV000397940RCV000589520RCV005359047 |
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
SNV Germline |
Chr16:23623096 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N not specified |
Criteria Provided Conflicting Classifications |
CA299741 |
rs_515726103 |
13 SubmittersRCV000114573RCV000160848RCV000212818RCV000764046RCV003226198 |
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
SNV Germline |
Chr16:23623062 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA167762 |
rs_369132015 |
14 SubmittersRCV000114574RCV000131197RCV000215879RCV001704012RCV005394375RCV004545746 |
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
SNV Germline |
Chr16:23636248 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Condition: not provided not specified PALB2-related disorder Pancreatic cancer, susceptibility to, 3 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA288454 |
rs_61756147 |
18 SubmittersRCV000114577RCV001119843RCV000116095RCV000212772RCV001192907RCV004528791RCV001355228RCV001249253RCV003492442 |
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
SNV Germline |
Chr16:23621419 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA168345 |
rs_376619846 |
11 SubmittersRCV000114589RCV000131550RCV000235226RCV001192771RCV005359048 |
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
SNV Germline |
Chr16:23621362 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 5 Breast and/or ovarian cancer PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 NICE approved PARP inhibitor treatment Inherited breast cancer and ovarian cancer Inherited ovarian cancer (without breast cancer) |
Reviewed By Expert Panel |
CA251004 |
rs_180177132 |
34 SubmittersRCV000114591RCV000116096RCV000212822RCV000588093RCV001171469RCV001535480RCV003389455RCV003492443RCV004528792RCV005016387RCV004577322RCV004584191RCV004584192 |
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
SNV Germline |
Chr16:23614077 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA168501 |
rs_377713277 |
14 SubmittersRCV000114598RCV000131630RCV000485289RCV000780560RCV002483180 |
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
SNV Germline |
Chr16:23636231 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA288463 |
rs_515726108 |
17 SubmittersRCV000114600RCV000116099RCV000212773RCV001174951RCV005359049RCV002490766RCV004529924 |
|
NM_024675.4(PALB2):c.3202-1G>C
|
SNV Germline |
Chr16:23608013 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA269608 |
rs_515726111 |
9 SubmittersRCV000114605RCV000160851RCV002321588 |
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
SNV Germline |
Chr16:23607963 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided Malignant tumor of breast Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 not specified PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA239946 |
rs_62625271 |
17 SubmittersRCV000114610RCV000160852RCV001116749RCV000656940RCV001358132RCV000764043RCV003493439RCV004739377 |
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
SNV Germline |
Chr16:23607958 |
Pathogenic/Likely pathogenic |
Pancreatic cancer, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Gastric cancer Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA211207 |
rs_587776527 |
24 SubmittersRCV000114612RCV000212825RCV000160853RCV000168017RCV001030644RCV002307393RCV005003472RCV003162531RCV003149788RCV003315406RCV004528793 |
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
SNV Germline |
Chr16:23607907 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA288475 |
rs_201657283 |
16 SubmittersRCV000116103RCV000114616RCV001030643RCV000656941RCV000212827RCV005359050RCV004739378 |
|
NM_024675.4(PALB2):c.3321G>A (p.Leu1107=)
|
SNV Germline |
Chr16:23607893 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA269613 |
rs_515726113 |
4 SubmittersRCV001030409RCV001019988 |
|
NM_024675.4(PALB2):c.3350+11A>G
|
SNV Germline |
Chr16:23607853 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA269616 |
rs_515726114 |
5 SubmittersRCV000424366RCV001030411RCV002466432 |
|
NM_024675.4(PALB2):c.3350+4A>G
|
SNV Germline |
Chr16:23607860 |
Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder PALB2-related cancer predisposition Malignant tumor of breast |
Reviewed By Expert Panel |
CA269618 |
rs_180177136 |
17 SubmittersRCV000114621RCV000213830RCV000433683RCV003315407RCV004528794RCV005359051RCV004798779 |
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
SNV Germline |
Chr16:23603664 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA331796 |
rs_515726116 |
8 SubmittersRCV000114623RCV000481742RCV000574823RCV005016389 |
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
SNV Germline |
Chr16:23603592 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided bilateral breast cancer Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N not specified |
Criteria Provided Conflicting Classifications |
CA288478 |
rs_62625284 |
22 SubmittersRCV000114625RCV000116104RCV000585950RCV001004833RCV000764041RCV004528795RCV005394376RCV001804169 |
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
SNV Germline |
Chr16:23636202 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related disorder Malignant tumor of breast Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA193686 |
rs_145598272 |
14 SubmittersRCV000114628RCV000165559RCV000589320RCV004528796RCV001357627RCV003149789 |
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
SNV Germline |
Chr16:23636146 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA163622 |
rs_139555085 |
17 SubmittersRCV000114637RCV000128994RCV000200990RCV000590187RCV001798302RCV002225308 |
|
NM_024675.4(PALB2):c.48+1G>C
|
SNV Germline |
Chr16:23641109 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA269629 |
rs_515726118 |
4 SubmittersRCV000213648RCV000236723RCV001030106 |
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
SNV Germline |
Chr16:23636043 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA269633 |
rs_515726122 |
7 SubmittersRCV000114642RCV000562468RCV003332116 |
|
NM_024675.4(PALB2):c.505C>A (p.Leu169Ile)
|
SNV Germline |
Chr16:23636041 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA269636 |
rs_180177086 |
3 SubmittersRCV001030154RCV002336247 |
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
SNV Germline |
Chr16:23638125 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA161315 |
rs_138789658 |
25 SubmittersRCV000114647RCV000121743RCV000129207RCV000376271RCV000440737RCV002225309 |
|
NM_024675.4(PALB2):c.620C>G (p.Pro207Arg)
|
SNV Germline |
Chr16:23635926 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA331799 |
rs_515726125 |
7 SubmittersRCV000114649RCV000776330RCV001572249 |
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
SNV Germline |
Chr16:23635917 |
Conflicting classifications of pathogenicity |
not specified Breast and/or ovarian cancer Fanconi anemia complementation group N Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA161333 |
rs_57605939 |
23 SubmittersRCV000121750RCV001798303RCV000306267RCV000114650RCV000131969RCV001705820RCV002225310RCV001358034 |
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
SNV Germline |
Chr16:23635890 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary cancer PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA294094 |
rs_45594034 |
19 SubmittersRCV000114652RCV000129603RCV000589693RCV000855601RCV003492444RCV004542814RCV005359053 |
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
SNV Germline |
Chr16:23635795 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA269645 |
rs_180177091 |
16 SubmittersRCV000114657RCV000210097RCV000413603RCV004813057RCV004796018RCV003492446 |
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
SNV Germline |
Chr16:23635732 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Condition: not provided |
Criteria Provided Conflicting Classifications |
CA193995 |
rs_515726127 |
11 SubmittersRCV000114664RCV000165689RCV004595926RCV002483181RCV003477491 |
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
SNV Germline |
Chr16:23635649 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA269660 |
rs_180177095 |
11 SubmittersRCV000114668RCV000419649RCV000566337RCV000858848RCV001118310RCV001798304 |
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
SNV Germline |
Chr16:23635647 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA161336 |
rs_528541334 |
14 SubmittersRCV000114669RCV000121751RCV000219489RCV001354467RCV001284670 |
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
SNV Germline |
Chr16:23638084 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group N Malignant tumor of breast PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA161318 |
rs_151316635 |
20 SubmittersRCV000114673RCV000116117RCV000121744RCV000656932RCV001119845RCV001357251RCV004529927RCV005016391 |
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
SNV Germline |
Chr16:23635306 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome Gastric cancer PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 1 Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Multiple Submitters No Conflicts |
CA288395 |
rs_180177100 |
29 SubmittersRCV000116064RCV000123331RCV000254674RCV001354096RCV000588541RCV003162546RCV004529946RCV004555854RCV004668783RCV005003478 |
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
SNV Germline |
Chr16:23635199 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 3 not specified |
Criteria Provided Conflicting Classifications |
CA288401 |
rs_587780205 |
8 SubmittersRCV000116066RCV000590184RCV001087089RCV001356241RCV001818286 |
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
SNV Germline |
Chr16:23634982 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA288407 |
rs_373876101 |
10 SubmittersRCV000116069RCV000205286RCV000563884RCV001192765RCV001357507 |
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
SNV Germline |
Chr16:23630457 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 2 PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA288413 |
rs_144617793 |
16 SubmittersRCV000116071RCV000229982RCV001030254RCV000564017RCV005016399RCV005359104RCV005623303RCV004542828 |
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
SNV Germline |
Chr16:23630421 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA288419 |
rs_587780207 |
6 SubmittersRCV000116074RCV000474485RCV000567502RCV002483190 |
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
SNV Germline |
Chr16:23637867 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA161321 |
rs_62625272 |
21 SubmittersRCV000116075RCV000121745RCV000168167RCV000585283RCV001030125 |
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
SNV Germline |
Chr16:23630167 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA288422 |
rs_62625277 |
12 SubmittersRCV000116076RCV000212804RCV000410272RCV002509225RCV005365003 |
|
NM_024675.4(PALB2):c.2078A>G (p.His693Arg)
|
SNV Germline |
Chr16:23630076 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA288425 |
rs_587780208 |
4 SubmittersRCV000116077RCV000576106RCV000467228 |
|
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)
|
SNV Germline |
Chr16:23629924 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA288438 |
rs_62625278 |
8 SubmittersRCV000116082RCV000234885RCV000635763RCV002265611 |
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
SNV Germline |
Chr16:23629775 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast Condition: not provided not specified Malignant tumor of breast PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA288444 |
rs_377626805 |
16 SubmittersRCV000116084RCV000292657RCV000200135RCV000212811RCV000780574RCV001354155RCV004542829 |
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
SNV Germline |
Chr16:23629645 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Familial cancer of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome PALB2-related disorder Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA161349 |
rs_587778587 |
19 SubmittersRCV000121758RCV000116087RCV000656936RCV000318539RCV000989556RCV001798359RCV001030647RCV004529947RCV001356207 |
|
NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr)
|
SNV Germline |
Chr16:23623119 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA161352 |
rs_587778588 |
8 SubmittersRCV000121761RCV000635686RCV000656938RCV001804846RCV005016400 |
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
SNV Germline |
Chr16:23623068 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Triple-negative breast cancer Condition: not provided Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N not specified Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA210470 |
rs_587780214 |
18 SubmittersRCV000116094RCV000204848RCV000202384RCV000212819RCV000764045RCV002267857RCV004760383 |
|
NM_024675.4(PALB2):c.3132A>C (p.Gln1044His)
|
SNV Germline |
Chr16:23614073 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA288460 |
rs_587780216 |
3 SubmittersRCV000116098RCV000454267RCV000635880 |
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
SNV Germline |
Chr16:23636193 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA288485 |
rs_370404126 |
10 SubmittersRCV000116107RCV000212774RCV000211074RCV002222397 |
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
SNV Germline |
Chr16:23603471 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 1 PALB2-related disorder Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N |
Reviewed By Expert Panel |
CA288488 |
rs_118203998 |
22 SubmittersRCV000116108RCV000200012RCV000587765RCV000212831RCV000763376RCV003493446RCV004528809RCV005394394 |
|
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr)
|
SNV Germline |
Chr16:23635995 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA288489 |
rs_587780220 |
5 SubmittersRCV000116109RCV000559113RCV001024216RCV002498499 |
|
NM_024675.4(PALB2):c.571C>G (p.Pro191Ala)
|
SNV Germline |
Chr16:23635975 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA288492 |
rs_587780221 |
5 SubmittersRCV000116110RCV000211086RCV000774642 |
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
SNV Germline |
Chr16:23635690 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA288495 |
rs_45585833 |
9 SubmittersRCV000567956RCV000410687RCV001174832RCV000766543RCV005394395 |
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
SNV Germline |
Chr16:23635618 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast not specified Breast and/or ovarian cancer PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA288501 |
rs_45561331 |
12 SubmittersRCV000116115RCV000200242RCV000212782RCV001354315RCV001290583RCV003149811RCV004528810 |
|
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)
|
SNV Germline |
Chr16:23635597 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA288504 |
rs_587780223 |
8 SubmittersRCV000116116RCV000212783RCV000472765RCV002483191 |
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
SNV Germline |
Chr16:23635492 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA167241 |
rs_201035780 |
10 SubmittersRCV000119209RCV000130853RCV000858055RCV001356550 |
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
SNV Germline |
Chr16:23629698 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA161343 |
rs_587778585 |
10 SubmittersRCV000121755RCV000129773RCV000410682RCV000657026 |
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
SNV Germline |
Chr16:23629896 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA161346 |
rs_587778586 |
14 SubmittersRCV000121757RCV000195647RCV000588075RCV000561765 |
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
SNV Germline |
Chr16:23641146 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA299688 |
rs_567706422 |
14 SubmittersRCV000123332RCV000160826RCV000212765RCV000858740RCV001121824 |
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
SNV Germline |
Chr16:23634909 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related disorder Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA332967 |
rs_148647206 |
9 SubmittersRCV000123333RCV000215046RCV000589758RCV004739425RCV002492444 |
|
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)
|
SNV Germline |
Chr16:23630067 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA170045 |
rs_587780820 |
11 SubmittersRCV000123336RCV000132543RCV001030277RCV004530058RCV005016426RCV003492552 |
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
SNV Germline |
Chr16:23629865 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA294144 |
rs_373478248 |
22 SubmittersRCV000123338RCV000130052RCV000212808RCV000587948RCV001357632RCV001798407RCV004528842 |
|
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)
|
SNV Germline |
Chr16:23629219 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA332973 |
rs_587780821 |
6 SubmittersRCV000123339RCV000486288RCV000560973RCV001535717 |
|
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)
|
SNV Germline |
Chr16:23624090 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA332974 |
rs_587780822 |
10 SubmittersRCV000123341RCV000220315RCV000507163RCV001546031RCV004739426 |
|
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser)
|
SNV Germline |
Chr16:23635824 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA168406 |
rs_587780823 |
5 SubmittersRCV000123343RCV000131587 |
|
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)
|
SNV Germline |
Chr16:23635777 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N PALB2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA194606 |
rs_587780824 |
9 SubmittersRCV000123344RCV000165945RCV003226206RCV003492553RCV005394457RCV004530060RCV004589611 |
|
NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro)
|
SNV Germline |
Chr16:23630457 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA163866 |
rs_144617793 |
7 SubmittersRCV000129134RCV001775617RCV000476315RCV005394468 |
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
SNV Germline |
Chr16:23626272 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA164329 |
rs_587781457 |
6 SubmittersRCV000129390RCV000485246RCV000799015 |
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
SNV Germline |
Chr16:23629737 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA164360 |
rs_45464991 |
12 SubmittersRCV000129403RCV000204760RCV000235688RCV001192769RCV001030305RCV003149891RCV001355012 |
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
SNV Germline |
Chr16:23636108 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA294070 |
rs_587781498 |
8 SubmittersRCV000129467RCV000212775RCV000410126 |
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
SNV Germline |
Chr16:23626241 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Diffuse midline glioma, H3 K27-altered PALB2-related disorder Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA164485 |
rs_374736398 |
11 SubmittersRCV000129474RCV000471567RCV000481045RCV003315231RCV004545873RCV001355149RCV005600709 |
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
SNV Germline |
Chr16:23603512 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA294118 |
rs_200283306 |
20 SubmittersRCV000129794RCV000226949RCV000212829RCV001818304RCV004760389RCV005359213 |
|
NM_024675.4(PALB2):c.3201+1G>T
|
SNV Germline |
Chr16:23614003 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA165631 |
rs_587776423 |
4 SubmittersRCV000130058RCV001206798 |
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
SNV Germline |
Chr16:23630199 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Hereditary breast ovarian cancer syndrome Endometrial carcinoma Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA165693 |
rs_587781818 |
11 SubmittersRCV000130094RCV000226926RCV000302799RCV001030649RCV001358211RCV000842453RCV001030271 |
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
SNV Germline |
Chr16:23635182 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA294158 |
rs_587781824 |
7 SubmittersRCV000130104RCV000409652RCV000212792RCV001116859 |
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
SNV Germline |
Chr16:23621431 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA165765 |
rs_367840862 |
7 SubmittersRCV000130130RCV000236113RCV000781686RCV000689784 |
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
SNV Germline |
Chr16:23635504 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Chordoma PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA165871 |
rs_375699023 |
12 SubmittersRCV000130172RCV000232741RCV000589687RCV001251061RCV002266924RCV004739441 |
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
SNV Germline |
Chr16:23630398 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA166193 |
rs_587781954 |
10 SubmittersRCV000130326RCV000411835RCV000481375RCV000764051RCV001798444 |
|
NM_024675.4(PALB2):c.563C>G (p.Ala188Gly)
|
SNV Germline |
Chr16:23635983 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA166273 |
rs_587781975 |
7 SubmittersRCV000130368RCV000168329RCV001818311RCV004791275 |
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
SNV Germline |
Chr16:23636122 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast PALB2-related disorder Malignant tumor of breast Breast cancer, susceptibility to |
Criteria Provided Multiple Submitters No Conflicts |
CA166400 |
rs_587782005 |
14 SubmittersRCV000130421RCV000412725RCV000476449RCV003387508RCV001357166RCV002251434 |
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
SNV Germline |
Chr16:23614059 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast not specified Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA166426 |
rs_138273800 |
18 SubmittersRCV000130431RCV000204730RCV000482622RCV001355887RCV001194140RCV002505109RCV003389456RCV003444205RCV004544294 |
|
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)
|
SNV Germline |
Chr16:23603544 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA166575 |
rs_587782050 |
3 SubmittersRCV000130518RCV003453075 |
|
NM_024675.4(PALB2):c.2521A>G (p.Thr841Ala)
|
SNV Germline |
Chr16:23629269 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA166713 |
rs_368990417 |
2 SubmittersRCV000130589RCV000470365 |
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
SNV Germline |
Chr16:23607907 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer not specified Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA166991 |
rs_201657283 |
12 SubmittersRCV000130728RCV000226292RCV000483048RCV000764042RCV003149901RCV001194142RCV003153422 |
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
SNV Germline |
Chr16:23635989 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 not specified |
Criteria Provided Conflicting Classifications |
CA167050 |
rs_587782164 |
12 SubmittersRCV000130756RCV000197454RCV000588642RCV003315411RCV002478396RCV004595933 |
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
SNV Germline |
Chr16:23607957 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Hereditary breast ovarian cancer syndrome PALB2-related disorder Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA294240 |
rs_146377793 |
17 SubmittersRCV000130835RCV000203792RCV000590502RCV000855603RCV002225436RCV004739448RCV005016447 |
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
SNV Germline |
Chr16:23635357 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and/or ovarian cancer Familial ovarian cancer Inherited breast cancer and ovarian cancer not specified Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA294249 |
rs_367578415 |
15 SubmittersRCV000130855RCV000205533RCV000586638RCV003149904RCV003447500RCV004584197RCV002267878RCV005359248 |
|
NM_024675.4(PALB2):c.1127G>C (p.Ser376Thr)
|
SNV Germline |
Chr16:23635419 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA167264 |
rs_587782200 |
5 SubmittersRCV000130860RCV000465244RCV003159104 |
|
NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser)
|
SNV Germline |
Chr16:23623018 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA167318 |
rs_587782211 |
5 SubmittersRCV000130889RCV000206313RCV000522868 |
|
NM_024675.4(PALB2):c.734C>T (p.Ala245Val)
|
SNV Germline |
Chr16:23635812 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA167345 |
rs_571063157 |
12 SubmittersRCV000130900RCV000483902RCV000200032RCV001030168RCV003315412RCV005394483 |
|
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys)
|
SNV Germline |
Chr16:23603528 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA167348 |
rs_587782217 |
7 SubmittersRCV000130901RCV000412141RCV000487310RCV004551258 |
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
SNV Germline |
Chr16:23626365 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial ovarian cancer |
Criteria Provided Conflicting Classifications |
CA168079 |
rs_587782387 |
13 SubmittersRCV000199659RCV000131395RCV000507756RCV001281710RCV001357530 |
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
SNV Germline |
Chr16:23629897 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group N Gastric cancer Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA168247 |
rs_180177110 |
26 SubmittersRCV000131502RCV000236519RCV000466579RCV000824730RCV001264577RCV001781472RCV003162588RCV003492624RCV004597749RCV004739453 |
|
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)
|
SNV Germline |
Chr16:23635288 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA168278 |
rs_587782446 |
5 SubmittersRCV000131515RCV000529684RCV000657737 |
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
SNV Germline |
Chr16:23641140 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA168342 |
rs_587782462 |
15 SubmittersRCV000131549RCV000432017RCV000557471RCV002265620 |
|
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)
|
SNV Germline |
Chr16:23607894 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA168427 |
rs_149194681 |
12 SubmittersRCV000131597RCV000204289RCV000235261RCV001818326RCV003315413RCV005394489 |
|
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)
|
SNV Germline |
Chr16:23641148 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA294407 |
rs_587782483 |
8 SubmittersRCV000131600RCV000205368RCV004696852 |
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
SNV Germline |
Chr16:23607918 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA168538 |
rs_142132127 |
23 SubmittersRCV000131652RCV000235868RCV000410212RCV000657014RCV001294230RCV002478400RCV005359278RCV005411346 |
|
NM_024675.4(PALB2):c.3350+5G>A
|
SNV Germline |
Chr16:23607859 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Condition: not provided PALB2-related disorder Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N |
Criteria Provided Multiple Submitters No Conflicts |
CA168760 |
rs_587782566 |
14 SubmittersRCV000131789RCV000526519RCV001824643RCV005359282RCV004998280RCV004739459RCV004796031 |
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
SNV Germline |
Chr16:23629233 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA168790 |
rs_587782579 |
10 SubmittersRCV000131807RCV000230627RCV000483722RCV001800443RCV002478401 |
|
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)
|
SNV Germline |
Chr16:23635806 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA169202 |
rs_587782658 |
9 SubmittersRCV000132073RCV000211087RCV000588870 |
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
SNV Germline |
Chr16:23626376 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA294480 |
rs_376641234 |
12 SubmittersRCV000132122RCV000212815RCV000227189RCV000656937 |
|
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn)
|
SNV Germline |
Chr16:23629753 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided See cases |
Criteria Provided Conflicting Classifications |
CA169572 |
rs_587782765 |
8 SubmittersRCV000167989RCV000132292RCV001570317RCV002251997 |
|
NM_024675.4(PALB2):c.292A>G (p.Ile98Val)
|
SNV Germline |
Chr16:23636254 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA169811 |
rs_587782831 |
8 SubmittersRCV000132416RCV000471839RCV001753518RCV002225448 |
|
NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe)
|
SNV Germline |
Chr16:23623113 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA170010 |
rs_587782889 |
5 SubmittersRCV000132527RCV000590893RCV000535908 |
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
SNV Germline |
Chr16:23635551 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA170038 |
rs_377149139 |
13 SubmittersRCV000132538RCV000199494RCV000589127RCV001354291 |
|
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)
|
SNV Germline |
Chr16:23635438 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA294547 |
rs_587776411 |
8 SubmittersRCV000133472RCV001030200RCV001525190 |
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
SNV Germline |
Chr16:23634975 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA294552 |
rs_587776413 |
8 SubmittersRCV000133475RCV000701075RCV000454158 |
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
SNV Germline |
Chr16:23630080 |
Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA294556 |
rs_587776415 |
9 SubmittersRCV000133477RCV000562385RCV001030275RCV003155925 |
|
NM_024675.4(PALB2):c.2834+1G>T
|
SNV Germline |
Chr16:23624008 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Multiple Submitters No Conflicts |
CA294560 |
rs_587776419 |
9 SubmittersRCV000133481RCV000567638RCV000411304RCV000763377 |
|
NM_024675.4(PALB2):c.3201+1G>C
|
SNV Germline |
Chr16:23614003 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA191641 |
rs_587776423 |
10 SubmittersRCV000164723RCV000230297RCV000133485 |
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
SNV Germline |
Chr16:23636095 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA294565 |
rs_587776407 |
9 SubmittersRCV000133491RCV000456418RCV000576041RCV004586565 |
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
SNV Germline |
Chr16:23641110 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Multiple Submitters No Conflicts |
CA294568 |
rs_587776405 |
8 SubmittersRCV000133492RCV000566830RCV001030105RCV004796039 |
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
SNV Germline |
Chr16:23603616 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon not specified Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA299753 |
rs_730881894 |
12 SubmittersRCV000232726RCV000589198RCV000570480RCV001030415RCV000855602RCV002492638 |
|
NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr)
|
SNV Germline |
Chr16:23607936 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA299750 |
rs_45616636 |
9 SubmittersRCV000160854RCV000197231RCV000223658RCV001357444RCV003483530 |
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
SNV Germline |
Chr16:23607979 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA299697 |
rs_730881878 |
12 SubmittersRCV000160829RCV000543305RCV000564254RCV001797644RCV005359383 |
|
NM_024675.4(PALB2):c.3202-8G>T
|
SNV Germline |
Chr16:23608020 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA299680 |
rs_367979106 |
7 SubmittersRCV000160822RCV000476584RCV000580700RCV001284321RCV005359382RCV001798556 |
|
NM_024675.4(PALB2):c.3202-8G>A
|
SNV Germline |
Chr16:23608020 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA299679 |
rs_367979106 |
7 SubmittersRCV000160821RCV000488296RCV001081288RCV000579984 |
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
SNV Germline |
Chr16:23623043 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA299744 |
rs_730881892 |
11 SubmittersRCV000160849RCV000566246RCV000205333RCV002267894RCV001355089 |
|
NM_024675.4(PALB2):c.2834+1G>A
|
SNV Germline |
Chr16:23624008 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Malignant tumor of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA299740 |
rs_587776419 |
9 SubmittersRCV000160847RCV000635960RCV001016726RCV001268941RCV002478488 |
|
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)
|
SNV Germline |
Chr16:23626285 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA299734 |
rs_730881890 |
7 SubmittersRCV000160844RCV000216145RCV000555792RCV002485001RCV005394561 |
|
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser)
|
SNV Germline |
Chr16:23629801 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA299731 |
rs_730881889 |
7 SubmittersRCV000160842RCV000460019RCV001015124RCV004700497 |
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
SNV Germline |
Chr16:23629825 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA299728 |
rs_148026749 |
8 SubmittersRCV000160841RCV000204167RCV000212809 |
|
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)
|
SNV Germline |
Chr16:23629925 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA299725 |
rs_730881888 |
6 SubmittersRCV000160839RCV002426793RCV004992040RCV002466252 |
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
SNV Germline |
Chr16:23630026 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA299722 |
rs_730881887 |
12 SubmittersRCV000160838RCV000232377RCV000569204RCV000780572RCV002485000RCV004535048 |
|
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)
|
SNV Germline |
Chr16:23630048 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA299719 |
rs_730881886 |
10 SubmittersRCV000160837RCV000211076RCV000212805 |
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
SNV Germline |
Chr16:23630134 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA299716 |
rs_730881885 |
6 SubmittersRCV000160836RCV000217309RCV000548729RCV002505195 |
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
SNV Germline |
Chr16:23630430 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome PALB2-related disorder Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA299691 |
rs_730881876 |
11 SubmittersRCV000160827RCV001238865RCV003155926RCV004724950RCV001781504RCV000771400 |
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
SNV Germline |
Chr16:23634936 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Carcinoma of colon Fanconi anemia complementation group N PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA299796 |
rs_142103232 |
14 SubmittersRCV000160871RCV000168207RCV000220923RCV001030240RCV001121722RCV004535051 |
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
SNV Germline |
Chr16:23635054 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Fanconi anemia complementation group N Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA185966 |
rs_75023630 |
14 SubmittersRCV000160870RCV000197379RCV000200991RCV000368837RCV001030650RCV000858743RCV001356483 |
|
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)
|
SNV Germline |
Chr16:23635075 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA299793 |
rs_577969558 |
7 SubmittersRCV000160869RCV000216241RCV000635626RCV002485002RCV004535050 |
|
NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp)
|
SNV Germline |
Chr16:23635139 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA299710 |
rs_730881883 |
5 SubmittersRCV000160834RCV000810010RCV000571438 |
|
NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp)
|
SNV Germline |
Chr16:23635146 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA299790 |
rs_730881906 |
5 SubmittersRCV000160868RCV000212793RCV000549785 |
|
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)
|
SNV Germline |
Chr16:23635390 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA299787 |
rs_148102335 |
6 SubmittersRCV000160867RCV000773131RCV002492639RCV000528086 |
|
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)
|
SNV Germline |
Chr16:23635858 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA299784 |
rs_730881905 |
8 SubmittersRCV000160866RCV000471920RCV000561729 |
|
NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)
|
SNV Germline |
Chr16:23635959 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA299781 |
rs_730881904 |
7 SubmittersRCV000160865RCV000216462RCV000228567RCV004535049 |
|
NM_024675.4(PALB2):c.397A>G (p.Ser133Gly)
|
SNV Germline |
Chr16:23636149 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA299704 |
rs_730881881 |
6 SubmittersRCV000227552RCV000587887RCV000454193 |
|
NM_024675.4(PALB2):c.212-2A>G
|
SNV Germline |
Chr16:23636336 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Fanconi anemia complementation group N PALB2-related disorder Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA299700 |
rs_730881879 |
13 SubmittersRCV000160830RCV000206312RCV000213220RCV002498799RCV001781505RCV004739509RCV004800300 |
|
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly)
|
SNV Germline |
Chr16:23637900 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA299763 |
rs_730881898 |
5 SubmittersRCV000160859RCV000212769RCV000463943RCV000780564 |
|
NM_024675.4(PALB2):c.109-2A>G
|
SNV Germline |
Chr16:23637954 |
Pathogenic/Likely pathogenic |
Condition: not provided Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA299762 |
rs_730881897 |
9 SubmittersRCV000160858RCV005016482RCV000572657RCV000803061 |
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
SNV Germline |
Chr16:23641115 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA299713 |
rs_730881884 |
6 SubmittersRCV000160835RCV000567534RCV001036521 |
|
NM_024675.4(PALB2):c.-5G>T
|
SNV Germline |
Chr16:23641162 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA299687 |
rs_730881875 |
3 SubmittersRCV000160825RCV000561746 |
|
NM_024675.4(PALB2):c.3545T>C (p.Val1182Ala)
|
SNV Germline |
Chr16:23603475 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA196999 |
rs_747149179 |
4 SubmittersRCV000166908RCV000548591 |
|
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)
|
SNV Germline |
Chr16:23607970 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA196312 |
rs_786203345 |
8 SubmittersRCV000166614RCV000232382RCV002505212RCV004998351 |
|
NM_024675.4(PALB2):c.3114-5C>T
|
SNV Germline |
Chr16:23614096 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA198420 |
rs_753307725 |
6 SubmittersRCV000167480RCV000934763RCV001775654 |
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
SNV Germline |
Chr16:23622979 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA197777 |
rs_786203775 |
6 SubmittersRCV000167226RCV000227242RCV000485825RCV002271440 |
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
SNV Germline |
Chr16:23624051 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 5 Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA196017 |
rs_773831304 |
16 SubmittersRCV000166492RCV000408812RCV000483646RCV002298494RCV003389046RCV001354782 |
|
NM_024675.4(PALB2):c.2782G>A (p.Val928Met)
|
SNV Germline |
Chr16:23624061 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA192592 |
rs_771288520 |
3 SubmittersRCV000165137RCV002516474 |
|
NM_024675.4(PALB2):c.2748+1G>T
|
SNV Germline |
Chr16:23626235 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA193676 |
rs_753153576 |
12 SubmittersRCV000165555RCV000635768RCV000487378RCV003155927 |
|
NM_024675.4(PALB2):c.2662A>T (p.Ile888Leu)
|
SNV Germline |
Chr16:23626322 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA192991 |
rs_786202468 |
4 SubmittersRCV000165291RCV000456550RCV002284368 |
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
SNV Germline |
Chr16:23629680 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 Endometrial carcinoma |
Criteria Provided Conflicting Classifications |
CA192462 |
rs_146218439 |
13 SubmittersRCV000165079RCV000236812RCV000780569RCV001086620RCV005359498RCV001256975 |
|
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)
|
SNV Germline |
Chr16:23629701 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA186194 |
rs_370908330 |
7 SubmittersRCV000162394RCV000476189RCV004589674RCV005235052 |
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
SNV Germline |
Chr16:23629798 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 not specified Condition: not provided Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA197222 |
rs_786203608 |
10 SubmittersRCV000166996RCV000226421RCV002505215RCV003321534RCV001566992RCV003129793 |
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
SNV Germline |
Chr16:23629810 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast not specified Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA196135 |
rs_786203296 |
11 SubmittersRCV000166543RCV000470017RCV000478256RCV001355915RCV003479039RCV002492670 |
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
SNV Germline |
Chr16:23629818 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome PALB2-related disorder Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA194883 |
rs_764509489 |
11 SubmittersRCV000457524RCV000166057RCV003226227RCV004528915RCV000480723 |
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
SNV Germline |
Chr16:23629877 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Fanconi anemia complementation group N Breast and/or ovarian cancer PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA193209 |
rs_786202524 |
11 SubmittersRCV000165372RCV000472744RCV000614133RCV001119745RCV003150021RCV004535111 |
|
NM_024675.4(PALB2):c.2228A>T (p.Tyr743Phe)
|
SNV Germline |
Chr16:23629926 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA191248 |
rs_141749524 |
2 SubmittersRCV000164551RCV000698708 |
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
SNV Germline |
Chr16:23629926 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial pancreatic carcinoma Familial cancer of breast Condition: not provided Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA189784 |
rs_141749524 |
13 SubmittersRCV000164010RCV000781684RCV001030648RCV003150010RCV005359455RCV000197626RCV000255110RCV000296163 |
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
SNV Germline |
Chr16:23630020 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA194955 |
rs_765942523 |
5 SubmittersRCV000166087RCV000459199RCV002485027 |
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
SNV Germline |
Chr16:23630054 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast not specified Condition: not provided PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA190176 |
rs_757145884 |
10 SubmittersRCV000164155RCV000347505RCV000200038RCV000611803RCV001358505RCV004539543 |
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
SNV Germline |
Chr16:23630087 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Fanconi anemia complementation group N Condition: not provided Carcinoma of colon PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA193263 |
rs_371149159 |
16 SubmittersRCV000165391RCV000197495RCV000420216RCV001119747RCV001284030RCV001356268RCV004535112 |
|
NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr)
|
SNV Germline |
Chr16:23630196 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA198426 |
rs_771246748 |
3 SubmittersRCV000167483RCV000456974 |
|
NM_024675.4(PALB2):c.1930G>T (p.Gly644Ter)
|
SNV Germline |
Chr16:23630224 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA192870 |
rs_786202439 |
1 SubmittersRCV000165251 |
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
SNV Germline |
Chr16:23630388 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Carcinoma of colon Malignant tumor of breast PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA198251 |
rs_773340677 |
11 SubmittersRCV000167418RCV000474329RCV000479496RCV001175052RCV001030258RCV001357624RCV004739545 |
|
NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser)
|
SNV Germline |
Chr16:23630406 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA195224 |
rs_587782151 |
7 SubmittersRCV000166198RCV000464125RCV000996241RCV005230014RCV005016500 |
|
NM_024675.4(PALB2):c.1691A>G (p.Lys564Arg)
|
SNV Germline |
Chr16:23630463 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA194670 |
rs_62625276 |
7 SubmittersRCV000165968RCV000197146RCV001030253 |
|
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)
|
SNV Germline |
Chr16:23634884 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA193865 |
rs_786202692 |
9 SubmittersRCV000165629RCV000462332RCV001567936RCV003491900 |
|
NM_024675.4(PALB2):c.1659C>G (p.His553Gln)
|
SNV Germline |
Chr16:23634887 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA196924 |
rs_370318597 |
4 SubmittersRCV000166875RCV000547924RCV001201201 |
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
SNV Germline |
Chr16:23634947 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N not specified PALB2-related disorder Condition: not provided Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA186523 |
rs_786201088 |
10 SubmittersRCV000162589RCV000232866RCV001121723RCV001818362RCV004544477RCV001704155RCV005359395 |
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
SNV Germline |
Chr16:23635020 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA195692 |
rs_786203176 |
5 SubmittersRCV000166375RCV000458684RCV000765273RCV002228767 |
|
NM_024675.4(PALB2):c.1510G>A (p.Val504Ile)
|
SNV Germline |
Chr16:23635036 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA196712 |
rs_771846754 |
3 SubmittersRCV000166778RCV000816945 |
|
NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile)
|
SNV Germline |
Chr16:23635092 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Carcinoma of colon |
Criteria Provided Conflicting Classifications |
CA193882 |
rs_786202699 |
5 SubmittersRCV000165637RCV000205126RCV000507136RCV001030228 |
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
SNV Germline |
Chr16:23635095 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Generalized hypopigmentation Basal cell carcinoma Hereditary breast ovarian cancer syndrome Familial cancer of breast Malignant tumor of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA197580 |
rs_786203714 |
12 SubmittersRCV000167136RCV000414940RCV000587378RCV001310142RCV001356904RCV001543564 |
|
NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn)
|
SNV Germline |
Chr16:23635125 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA190537 |
rs_786201806 |
6 SubmittersRCV000164284RCV000235242RCV000693357 |
|
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)
|
SNV Germline |
Chr16:23635138 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Inherited breast cancer and ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA191289 |
rs_150636811 |
10 SubmittersRCV000164567RCV000525404RCV000480806RCV002265643RCV005237616RCV005359480 |
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
SNV Germline |
Chr16:23635167 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 PALB2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA196834 |
rs_749494645 |
16 SubmittersRCV000166836RCV000289282RCV000483813RCV001030716RCV000989572RCV005396492RCV004739541RCV000780567 |
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
SNV Germline |
Chr16:23635273 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of breast Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome PALB2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA197697 |
rs_576081828 |
13 SubmittersRCV000167189RCV000205365RCV001358598RCV000236471RCV003491915RCV004689644RCV004539565RCV001030212 |
|
NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp)
|
SNV Germline |
Chr16:23635294 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA194782 |
rs_786202943 |
7 SubmittersRCV000166018RCV000228629RCV001775647RCV005016498 |
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
SNV Germline |
Chr16:23635423 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA196837 |
rs_373298267 |
13 SubmittersRCV000166837RCV000198293RCV000236203RCV001420780RCV004545875 |
|
NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser)
|
SNV Germline |
Chr16:23635449 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA191737 |
rs_554849907 |
6 SubmittersRCV000164773RCV000204324RCV005054172RCV004535105 |
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
SNV Germline |
Chr16:23635453 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA191954 |
rs_773001248 |
8 SubmittersRCV000164864RCV000486708RCV000205169RCV002485020 |
|
NM_024675.4(PALB2):c.1030A>G (p.Asn344Asp)
|
SNV Germline |
Chr16:23635516 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA194420 |
rs_786202850 |
4 SubmittersRCV000165880RCV000230594RCV004692776 |
|
NM_024675.4(PALB2):c.980G>A (p.Cys327Tyr)
|
SNV Germline |
Chr16:23635566 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA193324 |
rs_786202550 |
5 SubmittersRCV000165411RCV000460541RCV001836740 |
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
SNV Germline |
Chr16:23635596 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA191811 |
rs_45548638 |
8 SubmittersRCV000164806RCV000200449RCV001357471RCV000766544 |
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
SNV Germline |
Chr16:23635606 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA197949 |
rs_786203821 |
9 SubmittersRCV000167296RCV000463323RCV000523563RCV000586368 |
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
SNV Germline |
Chr16:23635717 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Carcinoma of colon Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA195935 |
rs_778309339 |
9 SubmittersRCV000166462RCV000235601RCV000477600RCV001030179RCV001336120 |
|
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)
|
SNV Germline |
Chr16:23635733 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA195966 |
rs_786203246 |
9 SubmittersRCV000166472RCV000556676RCV001555224RCV001193465 |
|
NM_024675.4(PALB2):c.788A>G (p.Glu263Gly)
|
SNV Germline |
Chr16:23635758 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA192260 |
rs_745553724 |
8 SubmittersRCV000164996RCV000485489RCV000233981RCV005016493 |
|
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)
|
SNV Germline |
Chr16:23635807 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA195172 |
rs_786203040 |
6 SubmittersRCV000166174RCV000459460RCV002485029 |
|
NM_024675.4(PALB2):c.637G>C (p.Val213Leu)
|
SNV Germline |
Chr16:23635909 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA198128 |
rs_786203875 |
5 SubmittersRCV000167372RCV000635925RCV001193467RCV002485041 |
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
SNV Germline |
Chr16:23636051 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Bile duct cancer |
Criteria Provided Conflicting Classifications |
CA193911 |
rs_200937538 |
15 SubmittersRCV000444952RCV000532734RCV000679773RCV000165654RCV001119841RCV001357741 |
|
NM_024675.4(PALB2):c.266A>G (p.Asp89Gly)
|
SNV Germline |
Chr16:23636280 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA190463 |
rs_786201790 |
2 SubmittersRCV000164258RCV002517613 |
|
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)
|
SNV Germline |
Chr16:23638077 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA196241 |
rs_144944814 |
9 SubmittersRCV000166587RCV000456690RCV000520497RCV002498826 |
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
SNV Germline |
Chr16:23638078 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA191499 |
rs_373483056 |
14 SubmittersRCV000164663RCV000199940RCV000236984RCV002222417RCV004808602 |
|
NM_024675.4(PALB2):c.36G>A (p.Glu12=)
|
SNV Germline |
Chr16:23641122 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA192309 |
rs_760609798 |
6 SubmittersRCV000165018RCV000476001RCV004998329 |
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
SNV Germline |
Chr16:23621369 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA334122 |
rs_756906403 |
12 SubmittersRCV000168000RCV000479177RCV000216674RCV001731498RCV001030381RCV002485044 |
|
NM_024675.4(PALB2):c.2835-1G>A
|
SNV Germline |
Chr16:23623131 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA334206 |
rs_515726099 |
5 SubmittersRCV000168057RCV000255033RCV000454148RCV004528920 |
|
NM_024675.4(PALB2):c.1659C>A (p.His553Gln)
|
SNV Germline |
Chr16:23634887 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA334554 |
rs_370318597 |
6 SubmittersRCV000519942RCV000582233RCV000168288 |
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
SNV Germline |
Chr16:23635230 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA334035 |
rs_537258442 |
13 SubmittersRCV000167944RCV000588409RCV000565232RCV000765276RCV001818401 |
|
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)
|
SNV Germline |
Chr16:23635431 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA334752 |
rs_786204243 |
4 SubmittersRCV000168425RCV000765277RCV000774638 |
|
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp)
|
SNV Germline |
Chr16:23635450 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA334083 |
rs_786204080 |
6 SubmittersRCV000167975RCV000774639RCV004808606 |
|
NM_024675.4(PALB2):c.85A>G (p.Ser29Gly)
|
SNV Germline |
Chr16:23638093 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA333979 |
rs_776110440 |
5 SubmittersRCV000167900RCV000217631RCV002262763 |
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
SNV Germline |
Chr16:23629649 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast not specified |
Criteria Provided Conflicting Classifications |
CA246241 |
rs_756502783 |
12 SubmittersRCV000575425RCV001085109RCV000724499RCV001354928RCV003321538 |
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
SNV Germline |
Chr16:23603482 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA335883 |
rs_863224788 |
10 SubmittersRCV000195715RCV000216876RCV000478251RCV001251265RCV002492923RCV005396619 |
|
NM_024675.4(PALB2):c.3473A>G (p.His1158Arg)
|
SNV Germline |
Chr16:23603547 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer PALB2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA338566 |
rs_45505500 |
9 SubmittersRCV000199321RCV000217762RCV001798672RCV004739589RCV004998415 |
|
NM_024675.4(PALB2):c.3448C>T (p.Leu1150Phe)
|
SNV Germline |
Chr16:23603572 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA337664 |
rs_863224787 |
6 SubmittersRCV000198123RCV000776376RCV001284322 |
|
NM_024675.4(PALB2):c.3260G>A (p.Ser1087Asn)
|
SNV Germline |
Chr16:23607954 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA336127 |
rs_863224786 |
2 SubmittersRCV000196033RCV001019497 |
|
NM_024675.4(PALB2):c.3202-9C>T
|
SNV Germline |
Chr16:23608021 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 3 Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA336806 |
rs_757444247 |
7 SubmittersRCV000196913RCV000579396RCV001354308RCV001711353RCV001818478 |
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
SNV Germline |
Chr16:23621372 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Chordoma |
Criteria Provided Conflicting Classifications |
CA336715 |
rs_863224783 |
10 SubmittersRCV000196785RCV000220160RCV001797063RCV002266931 |
|
NM_024675.4(PALB2):c.2515-1G>C
|
SNV Germline |
Chr16:23629276 |
Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA337588 |
rs_587776417 |
5 SubmittersRCV000198016RCV000580827RCV000985889 |
|
NM_024675.4(PALB2):c.2506G>T (p.Val836Phe)
|
SNV Germline |
Chr16:23629648 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA335985 |
rs_536644825 |
5 SubmittersRCV000195841RCV000584448RCV001030312 |
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
SNV Germline |
Chr16:23629794 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon not specified |
Criteria Provided Conflicting Classifications |
CA337312 |
rs_201042302 |
14 SubmittersRCV000197564RCV000216753RCV000236931RCV001030299RCV004586620 |
|
NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser)
|
SNV Germline |
Chr16:23629978 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA337127 |
rs_566813395 |
6 SubmittersRCV000197340RCV000569353RCV001775663RCV005361158 |
|
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn)
|
SNV Germline |
Chr16:23630014 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA335668 |
rs_45537237 |
7 SubmittersRCV000195423RCV000562225RCV003223619RCV005361157 |
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
SNV Germline |
Chr16:23635209 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA339587 |
rs_146434474 |
12 SubmittersRCV000200861RCV000761148RCV000255070RCV000562823RCV001194137RCV002492922RCV004530198RCV005600809 |
|
NM_024675.4(PALB2):c.985C>G (p.Leu329Val)
|
SNV Germline |
Chr16:23635561 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA336763 |
rs_863224792 |
3 SubmittersRCV000196873RCV001030192RCV005452958 |
|
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn)
|
SNV Germline |
Chr16:23635617 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA336641 |
rs_370887726 |
9 SubmittersRCV000196709RCV000480147RCV000570793RCV004689672RCV004739590 |
|
NM_024675.4(PALB2):c.380A>G (p.His127Arg)
|
SNV Germline |
Chr16:23636166 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA338916 |
rs_863224789 |
6 SubmittersRCV000199860RCV001804936RCV001030147 |
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
SNV Germline |
Chr16:23621402 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N not specified Breast and/or ovarian cancer Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA277851 |
rs_746872839 |
12 SubmittersRCV000202108RCV000213208RCV000479987RCV001116750RCV001174762RCV003491950RCV005396622 |
|
NM_024675.4(PALB2):c.3350+1G>A
|
SNV Germline |
Chr16:23607863 |
Pathogenic/Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA348374 |
rs_864622192 |
3 SubmittersRCV000204129 |
|
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)
|
SNV Germline |
Chr16:23607883 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA350039 |
rs_864622193 |
10 SubmittersRCV000222857RCV000205952RCV001800527RCV000587389RCV002478727RCV004764779 |
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
SNV Germline |
Chr16:23607943 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA350661 |
rs_864622138 |
5 SubmittersRCV000206656RCV000708617RCV004692825 |
|
NM_024675.4(PALB2):c.2834+2T>G
|
SNV Germline |
Chr16:23624007 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA349966 |
rs_864622481 |
1 SubmittersRCV000205865 |
|
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser)
|
SNV Germline |
Chr16:23629229 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA348183 |
rs_146455175 |
8 SubmittersRCV000203889RCV000573572RCV000679765 |
|
NM_024675.4(PALB2):c.1647C>A (p.His549Gln)
|
SNV Germline |
Chr16:23634899 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA348236 |
rs_747842085 |
11 SubmittersRCV000203956RCV000219639RCV000479905RCV000766620RCV001798683RCV005396646 |
|
NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile)
|
SNV Germline |
Chr16:23635089 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA349277 |
rs_864622291 |
4 SubmittersRCV000205091RCV000780561RCV001030229RCV002390544 |
|
NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)
|
SNV Germline |
Chr16:23635785 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA350807 |
rs_864622695 |
2 SubmittersRCV000206812RCV002390551 |
|
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
SNV Germline |
Chr16:23636038 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA349481 |
rs_864622622 |
8 SubmittersRCV000205323RCV000215139RCV000484020RCV003114369 |
|
NM_024675.4(PALB2):c.398G>T (p.Ser133Ile)
|
SNV Germline |
Chr16:23636148 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA348953 |
rs_864622411 |
5 SubmittersRCV000204748RCV000575642RCV005016566RCV005361185 |
|
NM_024675.4(PALB2):c.226A>G (p.Ile76Val)
|
SNV Germline |
Chr16:23636320 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 not specified |
Criteria Provided Conflicting Classifications |
CA348162 |
rs_541028076 |
8 SubmittersRCV000203860RCV000223229RCV000590079RCV001030134RCV005016565RCV001526861 |
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
SNV Germline |
Chr16:23637912 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA349816 |
rs_763598472 |
13 SubmittersRCV000205692RCV000236334RCV000221595RCV000656934RCV003491955RCV001357513 |
|
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys)
|
SNV Germline |
Chr16:23637952 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA348301 |
rs_200048921 |
10 SubmittersRCV000204029RCV000561601RCV000485666RCV004530229RCV002247634 |
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
SNV Germline |
Chr16:23635504 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10575850 |
rs_375699023 |
10 SubmittersRCV000255651RCV000409735RCV000416712RCV000568484RCV001358472 |
|
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)
|
SNV Germline |
Chr16:23624088 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Breast and/or ovarian cancer Chordoma not specified |
Criteria Provided Conflicting Classifications |
CA7963488 |
rs_775193384 |
10 SubmittersRCV000211057RCV000454132RCV000478723RCV005016571RCV003150103RCV002266935RCV002465567 |
|
NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)
|
SNV Germline |
Chr16:23635068 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Pilocytic astrocytoma Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963704 |
rs_770965402 |
7 SubmittersRCV000211081RCV000761143RCV000217376RCV001582721 |
|
NM_024675.4(PALB2):c.1194G>T (p.Val398=)
|
SNV Germline |
Chr16:23635352 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10576114 |
rs_61755173 |
5 SubmittersRCV000211072RCV002336588RCV004998437 |
|
NM_024675.4(PALB2):c.3544G>C (p.Val1182Leu)
|
SNV Germline |
Chr16:23603476 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579910 |
rs_876660474 |
2 SubmittersRCV000215738RCV000802184 |
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
SNV Germline |
Chr16:23603526 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Chordoma |
Criteria Provided Conflicting Classifications |
CA7963328 |
rs_773829275 |
12 SubmittersRCV000220953RCV002478804RCV000485944RCV000535759RCV001121621RCV002266936 |
|
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)
|
SNV Germline |
Chr16:23603608 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA7963343 |
rs_577651839 |
8 SubmittersRCV000215508RCV000686283RCV000759188RCV005016592 |
|
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)
|
SNV Germline |
Chr16:23603628 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA10579918 |
rs_876658196 |
10 SubmittersRCV000215576RCV000229527RCV000590765RCV005396705 |
|
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter)
|
SNV Germline |
Chr16:23603662 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10579919 |
rs_876658773 |
4 SubmittersRCV000215626RCV003454620 |
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
SNV Germline |
Chr16:23607864 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10579920 |
rs_876659859 |
9 SubmittersRCV000217139RCV000533846RCV002271470RCV003315422RCV002277578RCV004998471 |
|
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser)
|
SNV Germline |
Chr16:23607982 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Carcinoma of colon Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10579924 |
rs_876659587 |
8 SubmittersRCV000214649RCV000530258RCV001030400RCV001788088RCV003230458 |
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
SNV Germline |
Chr16:23607989 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963396 |
rs_202222149 |
7 SubmittersRCV000218610RCV000466966RCV002500726RCV005396711 |
|
NM_024675.4(PALB2):c.3201+3A>C
|
SNV Germline |
Chr16:23614001 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579928 |
rs_876660215 |
2 SubmittersRCV000216437RCV001853618 |
|
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)
|
SNV Germline |
Chr16:23614040 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA10579929 |
rs_876658157 |
4 SubmittersRCV000222632RCV001857756RCV004998440 |
|
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)
|
SNV Germline |
Chr16:23614091 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10579930 |
rs_778345761 |
4 SubmittersRCV000222262RCV001030388RCV001070907 |
|
NM_024675.4(PALB2):c.3113+5G>C
|
SNV Germline |
Chr16:23621357 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA10579931 |
rs_876659463 |
13 SubmittersRCV000214215RCV000231026RCV000255512RCV005016593RCV005416112 |
|
NM_024675.4(PALB2):c.3096G>C (p.Met1032Ile)
|
SNV Germline |
Chr16:23621379 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963436 |
rs_778705498 |
3 SubmittersRCV000217483RCV001216363 |
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
SNV Germline |
Chr16:23621414 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Breast and/or ovarian cancer Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963440 |
rs_143808171 |
8 SubmittersRCV000214675RCV000558947RCV002265691RCV001798715RCV003328567 |
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
SNV Germline |
Chr16:23622987 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA7963457 |
rs_61756146 |
12 SubmittersRCV000213330RCV000236936RCV000544190RCV002267960RCV002478799RCV005396720 |
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
SNV Germline |
Chr16:23622997 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA10579941 |
rs_876659036 |
10 SubmittersRCV000219424RCV000504617RCV000657700RCV000635907RCV004796114RCV005361290 |
|
NM_024675.4(PALB2):c.2835G>A (p.Arg945=)
|
SNV Germline |
Chr16:23623130 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579948 |
rs_876659983 |
3 SubmittersRCV000217381RCV000483812RCV001320081 |
|
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)
|
SNV Germline |
Chr16:23626291 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA10579954 |
rs_876658983 |
6 SubmittersRCV000216899RCV000478895RCV002518293RCV003491974 |
|
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)
|
SNV Germline |
Chr16:23626310 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Inherited breast cancer and ovarian cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA10579956 |
rs_45476495 |
6 SubmittersRCV000217992RCV001045962RCV005237756 |
|
NM_024675.4(PALB2):c.2667T>A (p.Thr889=)
|
SNV Germline |
Chr16:23626317 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579957 |
rs_876659224 |
4 SubmittersRCV000216116RCV001118199RCV005090094 |
|
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)
|
SNV Germline |
Chr16:23626354 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10579959 |
rs_876660678 |
3 SubmittersRCV000213186RCV001064019 |
|
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)
|
SNV Germline |
Chr16:23629642 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579963 |
rs_750650768 |
6 SubmittersRCV000213341RCV000635607RCV002478788RCV003223625 |
|
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)
|
SNV Germline |
Chr16:23629648 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast B lymphoblastic leukemia lymphoma with t(12 21)(p13 q22) TEL-AML1 (ETV6-RUNX1) Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA7963565 |
rs_536644825 |
6 SubmittersRCV000215537RCV000687946RCV000761094RCV002494591 |
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
SNV Germline |
Chr16:23629648 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963564 |
rs_536644825 |
12 SubmittersRCV000214970RCV000586837RCV000457210RCV001420721RCV005016588RCV005361295 |
|
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu)
|
SNV Germline |
Chr16:23629706 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA10579970 |
rs_876659879 |
4 SubmittersRCV000215749RCV000635843RCV002247661 |
|
NM_024675.4(PALB2):c.2437A>G (p.Ile813Val)
|
SNV Germline |
Chr16:23629717 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579971 |
rs_766396469 |
2 SubmittersRCV000216460 |
|
NM_024675.4(PALB2):c.2167A>T (p.Met723Leu)
|
SNV Germline |
Chr16:23629987 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA10579981 |
rs_876660336 |
5 SubmittersRCV000217611RCV000467128RCV003153509RCV005016605 |
|
NM_024675.4(PALB2):c.2167A>G (p.Met723Val)
|
SNV Germline |
Chr16:23629987 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579982 |
rs_876660336 |
2 SubmittersRCV000214669RCV001350792 |
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
SNV Germline |
Chr16:23630007 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Papillary thyroid carcinoma Condition: not provided not specified PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA7963618 |
rs_148335539 |
8 SubmittersRCV000214302RCV000458608RCV000761167RCV001567281RCV002271471RCV004532798 |
|
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)
|
SNV Germline |
Chr16:23630046 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA7963621 |
rs_752592662 |
3 SubmittersRCV000223583RCV001221815 |
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
SNV Germline |
Chr16:23630235 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Multiple Submitters No Conflicts |
CA7963646 |
rs_760094988 |
10 SubmittersRCV000214899RCV000479396RCV000545701RCV005016586 |
|
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)
|
SNV Germline |
Chr16:23630236 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 not specified |
Criteria Provided Conflicting Classifications |
CA10579991 |
rs_876659058 |
7 SubmittersRCV000221223RCV000635882RCV002478798RCV002509316 |
|
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr)
|
SNV Germline |
Chr16:23630236 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA10579992 |
rs_876659058 |
2 SubmittersRCV000221530RCV003133189 |
|
NM_024675.4(PALB2):c.1804C>G (p.Gln602Glu)
|
SNV Germline |
Chr16:23630350 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579997 |
rs_876660475 |
3 SubmittersRCV000218759RCV000538187 |
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
SNV Germline |
Chr16:23630387 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast not specified Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963663 |
rs_769849072 |
13 SubmittersRCV000217926RCV001121719RCV000457514RCV000436798RCV005365148RCV004532777RCV002478785 |
|
NM_024675.4(PALB2):c.1744T>C (p.Ser582Pro)
|
SNV Germline |
Chr16:23630410 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579999 |
rs_876659597 |
2 SubmittersRCV000214800RCV001316625 |
|
NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly)
|
SNV Germline |
Chr16:23630422 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963665 |
rs_764023822 |
7 SubmittersRCV000217898RCV000464403RCV000985887RCV001030256RCV005361246 |
|
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)
|
SNV Germline |
Chr16:23630452 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA10580001 |
rs_876659354 |
7 SubmittersRCV000214422RCV000818865RCV002494593RCV004541351RCV004701288 |
|
NM_024675.4(PALB2):c.1694G>A (p.Ser565Asn)
|
SNV Germline |
Chr16:23630460 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10580002 |
rs_876659914 |
5 SubmittersRCV000214165RCV000536671RCV001753674RCV004526647 |
|
NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe)
|
SNV Germline |
Chr16:23634958 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10580006 |
rs_876659671 |
3 SubmittersRCV000218879RCV000635734 |
|
NM_024675.4(PALB2):c.1573G>T (p.Asp525Tyr)
|
SNV Germline |
Chr16:23634973 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10580007 |
rs_876659074 |
2 SubmittersRCV000219759RCV001857775 |
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
SNV Germline |
Chr16:23635006 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA7963698 |
rs_756778249 |
12 SubmittersRCV000214985RCV000589880RCV000989570RCV001027798RCV003224228 |
|
NM_024675.4(PALB2):c.1456A>G (p.Lys486Glu)
|
SNV Germline |
Chr16:23635090 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10580008 |
rs_876658949 |
3 SubmittersRCV000215703RCV000811638RCV001570464 |
|
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)
|
SNV Germline |
Chr16:23635168 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10580012 |
rs_876658166 |
4 SubmittersRCV000222117RCV001853499 |
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
SNV Germline |
Chr16:23635467 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA10580022 |
rs_876659751 |
8 SubmittersRCV000220824RCV000679759RCV000459883RCV002500734 |
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
SNV Germline |
Chr16:23635474 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA10580023 |
rs_876660876 |
6 SubmittersRCV000220349RCV000235363RCV000466160RCV002494599 |
|
NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys)
|
SNV Germline |
Chr16:23635494 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA10580024 |
rs_876658656 |
5 SubmittersRCV000218423RCV000531194RCV005016578 |
|
NM_024675.4(PALB2):c.908T>C (p.Leu303Pro)
|
SNV Germline |
Chr16:23635638 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963747 |
rs_774057025 |
5 SubmittersRCV000216402RCV000822728RCV001284671 |
|
NM_024675.4(PALB2):c.902A>G (p.Asp301Gly)
|
SNV Germline |
Chr16:23635644 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Pancreatic cancer, susceptibility to, 3 not specified |
Criteria Provided Conflicting Classifications |
CA7963748 |
rs_759014440 |
8 SubmittersRCV000215213RCV000461086RCV000478906RCV001354911RCV004800343 |
|
NM_024675.4(PALB2):c.844A>G (p.Arg282Gly)
|
SNV Germline |
Chr16:23635702 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA7963752 |
rs_45447991 |
9 SubmittersRCV000220267RCV000462094RCV000759905RCV003491976 |
|
NM_024675.4(PALB2):c.826C>T (p.His276Tyr)
|
SNV Germline |
Chr16:23635720 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10580030 |
rs_876658815 |
2 SubmittersRCV000215431RCV000544750 |
|
NM_024675.4(PALB2):c.773G>A (p.Ser258Asn)
|
SNV Germline |
Chr16:23635773 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963758 |
rs_371289600 |
4 SubmittersRCV000215658RCV000635854RCV002485415 |
|
NM_024675.4(PALB2):c.619C>T (p.Pro207Ser)
|
SNV Germline |
Chr16:23635927 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10580036 |
rs_374090568 |
2 SubmittersRCV000214926RCV001370562 |
|
NM_024675.4(PALB2):c.595C>T (p.Leu199Phe)
|
SNV Germline |
Chr16:23635951 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10580037 |
rs_876660851 |
3 SubmittersRCV000216403RCV003765443 |
|
NM_024675.4(PALB2):c.583A>G (p.Ile195Val)
|
SNV Germline |
Chr16:23635963 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963779 |
rs_760784181 |
8 SubmittersRCV000215618RCV001030160RCV001234307RCV005016591RCV005365161 |
|
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)
|
SNV Germline |
Chr16:23636005 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10580039 |
rs_864622280 |
4 SubmittersRCV000219378RCV001060848RCV005237732 |
|
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)
|
SNV Germline |
Chr16:23636199 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA10580044 |
rs_876660465 |
5 SubmittersRCV000223009RCV000709748RCV003227721 |
|
NM_024675.4(PALB2):c.338C>G (p.Pro113Arg)
|
SNV Germline |
Chr16:23636208 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963798 |
rs_374425261 |
3 SubmittersRCV000219266RCV000552379 |
|
NM_024675.4(PALB2):c.308G>A (p.Gly103Glu)
|
SNV Germline |
Chr16:23636238 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10580046 |
rs_876660794 |
2 SubmittersRCV000222248RCV001854715 |
|
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)
|
SNV Germline |
Chr16:23636317 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963811 |
rs_760045493 |
10 SubmittersRCV000222033RCV000472473RCV000485885RCV001818541RCV005361343 |
|
NM_024675.4(PALB2):c.154G>A (p.Val52Ile)
|
SNV Germline |
Chr16:23637907 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10580051 |
rs_876659444 |
2 SubmittersRCV000215013RCV000482119 |
|
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)
|
SNV Germline |
Chr16:23637946 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10580053 |
rs_876659319 |
4 SubmittersRCV000223492RCV000551161 |
|
NM_024675.4(PALB2):c.48+2T>G
|
SNV Germline |
Chr16:23641108 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA10580057 |
rs_876659679 |
1 SubmittersRCV000221819 |
|
NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter)
|
SNV Germline |
Chr16:23603600 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10583349 |
rs_878855118 |
2 SubmittersRCV000226507RCV004020882 |
|
NM_024675.4(PALB2):c.2964A>G (p.Gln988=)
|
SNV Germline |
Chr16:23623001 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA7963460 |
rs_777244673 |
6 SubmittersRCV000229549RCV000563128RCV000759903RCV001192741RCV004725117 |
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
SNV Germline |
Chr16:23623125 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Inherited breast cancer and ovarian cancer not specified Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963465 |
rs_45464500 |
10 SubmittersRCV000229185RCV000564890RCV000587839RCV005055099RCV005238770RCV005003582 |
|
NM_024675.4(PALB2):c.2624T>C (p.Met875Thr)
|
SNV Germline |
Chr16:23626360 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583359 |
rs_878855110 |
3 SubmittersRCV000231157RCV000780566RCV004649110 |
|
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)
|
SNV Germline |
Chr16:23626390 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10583360 |
rs_746604683 |
3 SubmittersRCV000234617RCV003352808 |
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
SNV Germline |
Chr16:23629645 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Pancreatic cancer, susceptibility to, 3 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10583361 |
rs_587778587 |
7 SubmittersRCV000227927RCV000454198RCV000235331RCV001030314RCV001193462 |
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
SNV Germline |
Chr16:23629953 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided not specified Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA10583365 |
rs_878855107 |
17 SubmittersRCV000233965RCV000569446RCV001119746RCV001566044RCV001820767RCV002487088RCV004739637RCV005361461 |
|
NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)
|
SNV Germline |
Chr16:23630088 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA7963627 |
rs_749602688 |
6 SubmittersRCV000228021RCV001030274RCV000774634RCV004541455 |
|
NM_024675.4(PALB2):c.1753G>A (p.Asp585Asn)
|
SNV Germline |
Chr16:23630401 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10583370 |
rs_878855102 |
5 SubmittersRCV000227668RCV000773064RCV002277593 |
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
SNV Germline |
Chr16:23635083 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA7963705 |
rs_767926590 |
8 SubmittersRCV000226177RCV000564692RCV000589383RCV002487087 |
|
NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter)
|
SNV Germline |
Chr16:23635177 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10583374 |
rs_878855099 |
2 SubmittersRCV000231944 |
|
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)
|
SNV Germline |
Chr16:23635320 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA10583375 |
rs_878855097 |
7 SubmittersRCV000230943RCV000709387RCV000985884RCV003492015 |
|
NM_024675.4(PALB2):c.365A>G (p.Asp122Gly)
|
SNV Germline |
Chr16:23636181 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10583383 |
rs_866367185 |
4 SubmittersRCV000232654RCV001189069RCV004721317 |
|
NM_024675.4(PALB2):c.212-3C>T
|
SNV Germline |
Chr16:23636337 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583385 |
rs_878855106 |
3 SubmittersRCV000228404RCV000569563 |
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
SNV Germline/somatic |
Chr16:23638099 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Fanconi anemia complementation group N Lung cancer PALB2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA10583387 |
rs_878855122 |
16 SubmittersRCV000228882RCV000255635RCV000454231RCV001175093RCV002500815RCV003485568RCV002282082RCV004532964 |
|
NM_024675.4(PALB2):c.48+7G>C
|
SNV Germline |
Chr16:23641103 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA7963885 |
rs_190626072 |
10 SubmittersRCV000230746RCV000580140RCV000433452RCV000586925RCV004541457 |
|
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)
|
SNV Germline |
Chr16:23641151 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10583388 |
rs_878855123 |
8 SubmittersRCV000231797RCV000582525RCV000657770 |
|
NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
SNV Germline |
Chr16:23641156 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA7963891 |
rs_756519825 |
4 SubmittersRCV000230496RCV002436040 |
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
SNV Germline |
Chr16:23603528 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10584499 |
rs_587782217 |
8 SubmittersRCV000235984RCV000662671RCV001020433 |
|
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)
|
SNV Germline |
Chr16:23603529 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10584500 |
rs_879254113 |
6 SubmittersRCV000235914RCV000454361RCV000477362 |
|
NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu)
|
SNV Germline |
Chr16:23603584 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10584501 |
rs_879254033 |
4 SubmittersRCV000236192RCV001854872RCV001183519 |
|
NM_024675.4(PALB2):c.2996+5G>T
|
SNV Germline |
Chr16:23622964 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA10584507 |
rs_879254193 |
11 SubmittersRCV000468560RCV000562437RCV000587970RCV004541468RCV005238783 |
|
NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter)
|
SNV Germline |
Chr16:23623105 |
Pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10584509 |
rs_879254015 |
2 SubmittersRCV000235480RCV001854860 |
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
SNV Germline |
Chr16:23629719 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Malignant tumor of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA7963575 |
rs_774502617 |
9 SubmittersRCV000235316RCV000635929RCV000575251RCV001357974RCV002494681RCV003330604 |
|
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)
|
SNV Germline |
Chr16:23629957 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA10584511 |
rs_879254051 |
7 SubmittersRCV000236085RCV000470751RCV000571493RCV002487097RCV005230178 |
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
SNV Germline |
Chr16:23630006 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA7963617 |
rs_770145849 |
7 SubmittersRCV000236038RCV000464776RCV000574979RCV002479940 |
|
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)
|
SNV Germline |
Chr16:23630088 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10584512 |
rs_749602688 |
3 SubmittersRCV000236381RCV003454716RCV002418041 |
|
NM_024675.4(PALB2):c.2053A>C (p.Lys685Gln)
|
SNV Germline |
Chr16:23630101 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10584513 |
rs_876660397 |
5 SubmittersRCV000235440RCV001854851RCV000566295 |
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
SNV Germline |
Chr16:23630293 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA7963654 |
rs_756116550 |
10 SubmittersRCV000235273RCV000454184RCV000989565RCV001192764 |
|
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr)
|
SNV Germline |
Chr16:23635878 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA7963771 |
rs_150517167 |
8 SubmittersRCV000236902RCV000635688RCV000572381RCV001193466 |
|
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)
|
SNV Germline |
Chr16:23636074 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10584523 |
rs_879254197 |
3 SubmittersRCV000237059RCV001382726 |
|
NM_024675.4(PALB2):c.398G>A (p.Ser133Asn)
|
SNV Germline |
Chr16:23636148 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10584524 |
rs_864622411 |
5 SubmittersRCV000235826RCV000691656RCV000780568RCV000570939 |
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
SNV Germline |
Chr16:23637856 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA10584525 |
rs_879253891 |
8 SubmittersRCV000236918RCV000575557RCV000823428RCV000781688RCV002494677 |
|
NM_024675.4(PALB2):c.155T>C (p.Val52Ala)
|
SNV Germline |
Chr16:23637906 |
Conflicting classifications of pathogenicity |
Breast neoplasm Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963833 |
rs_373970237 |
8 SubmittersRCV000417330RCV000235666RCV000462987RCV000568339 |
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
SNV Germline |
Chr16:23641157 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10584527 |
rs_879254144 |
5 SubmittersRCV000237093RCV000696235RCV002418043 |
|
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
SNV Germline |
Chr16:23607980 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10588601 |
rs_886039634 |
6 SubmittersRCV000254975RCV001525205RCV001855013 |
|
NM_024675.4(PALB2):c.3114-1G>A
|
SNV Germline |
Chr16:23614092 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Multiple Submitters No Conflicts |
CA10588602 |
rs_886039619 |
6 SubmittersRCV000255848RCV000551424RCV000569707RCV005361500 |
|
NM_024675.4(PALB2):c.2996+1G>T
|
SNV Germline |
Chr16:23622968 |
Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10588605 |
rs_886039626 |
3 SubmittersRCV000255151RCV001017834RCV001379452 |
|
NM_024675.4(PALB2):c.2835-2A>C
|
SNV Germline |
Chr16:23623132 |
Likely pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10588606 |
rs_886039613 |
2 SubmittersRCV000256178RCV003454780 |
|
NM_024675.4(PALB2):c.2514+1G>C
|
SNV Germline |
Chr16:23629639 |
Likely pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10588607 |
rs_886039729 |
5 SubmittersRCV000255296RCV001229856RCV002429197 |
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
SNV Germline |
Chr16:23629786 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia Hereditary cancer Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10588608 |
rs_886039480 |
11 SubmittersRCV000255054RCV000454204RCV000509375RCV000552634RCV003155937 |
|
NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)
|
SNV Germline |
Chr16:23635050 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10588610 |
rs_886039620 |
2 SubmittersRCV000254924RCV001390098 |
|
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)
|
SNV Germline |
Chr16:23635122 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10588611 |
rs_886039479 |
4 SubmittersRCV000255228RCV001066196RCV002392782 |
|
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)
|
SNV Germline |
Chr16:23636125 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10588614 |
rs_886039686 |
3 SubmittersRCV000256010RCV003454783 |
|
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)
|
SNV Germline |
Chr16:23637883 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10588615 |
rs_886039747 |
4 SubmittersRCV000255924RCV001013160RCV002518769 |
|
NM_024675.4(PALB2):c.3202-1G>A
|
SNV Germline |
Chr16:23608013 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Multiple Submitters No Conflicts |
CA16042147 |
rs_515726111 |
10 SubmittersRCV000409659RCV001019201RCV003493565RCV002481267 |
|
NM_024675.4(PALB2):c.2748+1G>C
|
SNV Germline |
Chr16:23626235 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA16042148 |
rs_753153576 |
5 SubmittersRCV000409294RCV001176291RCV003315425RCV003477909 |
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
SNV Germline |
Chr16:23629214 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16042149 |
rs_1057517539 |
4 SubmittersRCV000410429RCV000454290 |
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
SNV Germline |
Chr16:23641155 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA16042152 |
rs_1057517585 |
8 SubmittersRCV000410696RCV000505935RCV000567207RCV004698787 |
|
NM_024675.4(PALB2):c.1448C>G (p.Ser483Ter)
|
SNV Germline |
Chr16:23635098 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16607001 |
rs_1057520736 |
2 SubmittersRCV000421638RCV001525971 |
|
NM_024675.4(PALB2):c.1746C>T (p.Ser582=)
|
SNV Germline |
Chr16:23630408 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16607213 |
rs_1057520985 |
6 SubmittersRCV000430741RCV000775902RCV001490679RCV003477918 |
|
NM_024675.4(PALB2):c.1685-14T>A
|
SNV Germline |
Chr16:23630483 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast PALB2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963670 |
rs_780772404 |
6 SubmittersRCV000443095RCV000663142RCV005355771RCV003584602 |
|
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)
|
SNV Germline |
Chr16:23635108 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16607220 |
rs_1057520653 |
6 SubmittersRCV000424678RCV001390153RCV005384711 |
|
NM_024675.4(PALB2):c.66A>G (p.Ala22=)
|
SNV Germline |
Chr16:23638112 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16607223 |
rs_1057520982 |
6 SubmittersRCV000923663RCV000569467RCV001119846RCV001456862 |
|
NM_024675.4(PALB2):c.2992G>A (p.Gly998Arg)
|
SNV Germline |
Chr16:23622973 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16607334 |
rs_1039184417 |
4 SubmittersRCV000442850RCV000775926RCV001046244 |
|
NM_024675.4(PALB2):c.1685-1G>C
|
SNV Germline |
Chr16:23630470 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16607339 |
rs_1057520645 |
6 SubmittersRCV000431972RCV001055212RCV002411312 |
|
NM_024675.4(PALB2):c.2993G>C (p.Gly998Ala)
|
SNV Germline |
Chr16:23622972 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16608106 |
rs_45551636 |
4 SubmittersRCV000425596RCV000775893RCV001038066 |
|
NM_024675.4(PALB2):c.1611G>A (p.Ser537=)
|
SNV Germline |
Chr16:23634935 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 not specified |
Criteria Provided Conflicting Classifications |
CA7963693 |
rs_730881874 |
10 SubmittersRCV000989569RCV001121721RCV000572139RCV001703482RCV005355718RCV005407090 |
|
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)
|
SNV Germline |
Chr16:23635122 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16608121 |
rs_886039479 |
3 SubmittersRCV000436797RCV003449055RCV005384712 |
|
NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys)
|
SNV Germline |
Chr16:23603556 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963332 |
rs_755609496 |
5 SubmittersRCV000454280RCV000529716RCV000480681 |
|
NM_024675.4(PALB2):c.3202-2A>C
|
SNV Germline |
Chr16:23608014 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA16609588 |
rs_1060499827 |
4 SubmittersRCV000454196RCV000576715 |
|
NM_024675.4(PALB2):c.2748+2T>C
|
SNV Germline |
Chr16:23626234 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA16609594 |
rs_1060499821 |
2 SubmittersRCV000454214RCV003449105 |
|
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)
|
SNV Germline |
Chr16:23629681 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963569 |
rs_745747228 |
4 SubmittersRCV000454362RCV000764048RCV001861653 |
|
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)
|
SNV Germline |
Chr16:23635507 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA16609602 |
rs_1060499812 |
5 SubmittersRCV000454356RCV003315427RCV003239290 |
|
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)
|
SNV Germline |
Chr16:23635615 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA16609604 |
rs_1060499831 |
3 SubmittersRCV000454180RCV003476020 |
|
NM_024675.4(PALB2):c.108+1G>A
|
SNV Germline |
Chr16:23638069 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Pancreatic cancer, susceptibility to, 3 Breast cancer, susceptibility to |
Criteria Provided Multiple Submitters No Conflicts |
CA16609606 |
rs_1060499814 |
12 SubmittersRCV000454354RCV000466548RCV000484652RCV001258109 |
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
SNV Germline |
Chr16:23638072 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Multiple Submitters No Conflicts |
CA16609607 |
rs_757369748 |
7 SubmittersRCV000454301RCV001380280RCV000657579RCV000763378 |
|
NM_024675.4(PALB2):c.3508C>A (p.His1170Asn)
|
SNV Germline |
Chr16:23603512 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614807 |
rs_200283306 |
3 SubmittersRCV000459786RCV001192088 |
|
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)
|
SNV Germline |
Chr16:23621440 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963444 |
rs_761032954 |
12 SubmittersRCV000575045RCV000479556RCV000475841RCV005018786 |
|
NM_024675.4(PALB2):c.2940C>T (p.Ser980=)
|
SNV Germline |
Chr16:23623025 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963464 |
rs_766049739 |
7 SubmittersRCV000461224RCV000580627RCV001712437RCV005355903 |
|
NM_024675.4(PALB2):c.2834+3A>G
|
SNV Germline |
Chr16:23624006 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614824 |
rs_1060502766 |
2 SubmittersRCV000474406RCV001016728 |
|
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)
|
SNV Germline |
Chr16:23634993 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA16614852 |
rs_1060502805 |
5 SubmittersRCV000469612RCV001012094RCV004529598 |
|
NM_024675.4(PALB2):c.2749-1G>C
|
SNV Germline |
Chr16:23624095 |
Likely pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16614853 |
rs_1060502804 |
3 SubmittersRCV000461242RCV002509392RCV005452993 |
|
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)
|
SNV Germline |
Chr16:23635009 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Carcinoma of colon |
Criteria Provided Conflicting Classifications |
CA16614855 |
rs_1060502741 |
7 SubmittersRCV000474363RCV000575626RCV000587874RCV002480416RCV001030235 |
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
SNV Germline |
Chr16:23626254 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA16614856 |
rs_995629797 |
9 SubmittersRCV000459119RCV000568217RCV002489062RCV000657580 |
|
NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr)
|
SNV Germline |
Chr16:23626307 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963508 |
rs_765077104 |
8 SubmittersRCV000457988RCV001016287RCV003991027RCV005243235 |
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
SNV Germline |
Chr16:23635163 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA7963711 |
rs_768482110 |
8 SubmittersRCV000470251RCV000781681RCV000568070RCV000679760RCV002481444 |
|
NM_024675.4(PALB2):c.1084C>G (p.Leu362Val)
|
SNV Germline |
Chr16:23635462 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614861 |
rs_1060502758 |
2 SubmittersRCV000475695RCV000572723 |
|
NM_024675.4(PALB2):c.880A>G (p.Lys294Glu)
|
SNV Germline |
Chr16:23635666 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963750 |
rs_753676934 |
5 SubmittersRCV000468876RCV000574047RCV002223850 |
|
NM_024675.4(PALB2):c.2514+8C>T
|
SNV Germline |
Chr16:23629632 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA16614865 |
rs_1060504706 |
4 SubmittersRCV000470502RCV004017633RCV004740248 |
|
NM_024675.4(PALB2):c.2389C>A (p.Gln797Lys)
|
SNV Germline |
Chr16:23629765 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16614866 |
rs_1060502768 |
4 SubmittersRCV000476517RCV000567346RCV003318580 |
|
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)
|
SNV Germline |
Chr16:23629966 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA16614873 |
rs_1060502735 |
8 SubmittersRCV000468216RCV000479293RCV000563382RCV001199879RCV001354437 |
|
NM_024675.4(PALB2):c.304G>A (p.Val102Ile)
|
SNV Germline |
Chr16:23636242 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963803 |
rs_778573607 |
6 SubmittersRCV000465446RCV000562562RCV003332178 |
|
NM_024675.4(PALB2):c.45A>G (p.Glu15=)
|
SNV Germline |
Chr16:23641113 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Familial pancreatic carcinoma Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614880 |
rs_1060504718 |
6 SubmittersRCV000828254RCV001085519RCV005355905RCV003168912 |
|
NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter)
|
SNV Germline |
Chr16:23635111 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16614893 |
rs_1060502761 |
2 SubmittersRCV000463150RCV001011563 |
|
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)
|
SNV Germline |
Chr16:23635329 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA16614898 |
rs_1060502757 |
8 SubmittersRCV000463216RCV000569051RCV001561387RCV002481447 |
|
NM_024675.4(PALB2):c.1144A>C (p.Ser382Arg)
|
SNV Germline |
Chr16:23635402 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614900 |
rs_1060502737 |
3 SubmittersRCV000476970RCV000775933 |
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
SNV Germline |
Chr16:23603629 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 not specified |
Criteria Provided Conflicting Classifications |
CA7963344 |
rs_774517454 |
7 SubmittersRCV000456527RCV000589068RCV000771464RCV005355850RCV004596198 |
|
NM_024675.4(PALB2):c.3351-2A>G
|
SNV Germline |
Chr16:23603671 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA16615066 |
rs_1060502764 |
5 SubmittersRCV000466376RCV001020064RCV004721374 |
|
NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly)
|
SNV Germline |
Chr16:23607958 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA16615072 |
rs_587776527 |
6 SubmittersRCV000461441RCV000773077RCV003319358RCV003321613RCV005355852 |
|
NM_024675.4(PALB2):c.2835-3T>C
|
SNV Germline |
Chr16:23623133 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16615078 |
rs_1060502795 |
4 SubmittersRCV000468775RCV001016565RCV004596199 |
|
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter)
|
SNV Germline |
Chr16:23626273 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA16615083 |
rs_1060502726 |
7 SubmittersRCV000465081RCV000566729RCV000522916RCV005355847 |
|
NM_024675.4(PALB2):c.2328C>A (p.Phe776Leu)
|
SNV Germline |
Chr16:23629826 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA16615088 |
rs_45508997 |
4 SubmittersRCV000469475RCV004943901RCV005398628 |
|
NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser)
|
SNV Germline |
Chr16:23629851 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16615091 |
rs_1060502770 |
3 SubmittersRCV000471672RCV001015017 |
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
SNV Germline |
Chr16:23630458 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA7963668 |
rs_746582620 |
10 SubmittersRCV000461240RCV000586825RCV000563652RCV002481446 |
|
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)
|
SNV Germline |
Chr16:23635180 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA16615101 |
rs_1060502785 |
3 SubmittersRCV000472293 |
|
NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser)
|
SNV Germline |
Chr16:23635443 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16615103 |
rs_1060502799 |
4 SubmittersRCV000469658RCV000563832RCV003153633 |
|
NM_024675.4(PALB2):c.727A>C (p.Thr243Pro)
|
SNV Germline |
Chr16:23635819 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16615106 |
rs_1060502747 |
4 SubmittersRCV000464943RCV000567643RCV001848813 |
|
NM_024675.4(PALB2):c.602G>A (p.Ser201Asn)
|
SNV Germline |
Chr16:23635944 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16615115 |
rs_1060502790 |
2 SubmittersRCV000476599RCV004943900 |
|
NM_024675.4(PALB2):c.206A>T (p.His69Leu)
|
SNV Germline |
Chr16:23637855 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA16615126 |
rs_749443090 |
8 SubmittersRCV000476673RCV000485056RCV000569594RCV005018787 |
|
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)
|
SNV Germline |
Chr16:23637934 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA7963836 |
rs_765125459 |
11 SubmittersRCV000474623RCV000580520RCV000485071RCV002481445 |
|
NM_024675.4(PALB2):c.2725C>G (p.Leu909Val)
|
SNV Germline |
Chr16:23626259 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16615221 |
rs_1060502739 |
3 SubmittersRCV000463483RCV000572861 |
|
NM_024675.4(PALB2):c.2587-2A>C
|
SNV Germline |
Chr16:23626399 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16615225 |
rs_1060502787 |
3 SubmittersRCV000460478RCV002429521 |
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
SNV Germline |
Chr16:23629716 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA7963573 |
rs_763191051 |
9 SubmittersRCV000476976RCV000588415RCV000564912RCV004533194 |
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
SNV Germline |
Chr16:23629779 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16615240 |
rs_1060502748 |
5 SubmittersRCV000457054RCV001813781RCV004649161 |
|
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)
|
SNV Germline |
Chr16:23635054 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA16615265 |
rs_75023630 |
4 SubmittersRCV000466463RCV000572623RCV002496776 |
|
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)
|
SNV Germline |
Chr16:23635203 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16615266 |
rs_956172059 |
5 SubmittersRCV000464002RCV000564122RCV000486431 |
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
SNV Germline |
Chr16:23635333 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer PALB2-related disorder Ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963723 |
rs_545119348 |
9 SubmittersRCV000456874RCV000561159RCV003492059RCV004529596RCV003153632RCV005355849 |
|
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter)
|
SNV Germline |
Chr16:23635498 |
Pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16615273 |
rs_1060502788 |
5 SubmittersRCV000476491RCV000520926RCV002402280 |
|
NM_024675.4(PALB2):c.661G>A (p.Val221Ile)
|
SNV Germline |
Chr16:23635885 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16615301 |
rs_1060502773 |
7 SubmittersRCV000462286RCV003324751RCV005355851RCV000569599 |
|
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser)
|
SNV Germline |
Chr16:23636036 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16615302 |
rs_1060502796 |
5 SubmittersRCV000474642RCV000571001RCV001294231RCV003477982 |
|
NM_024675.4(PALB2):c.3421G>A (p.Asp1141Asn)
|
SNV Germline |
Chr16:23603599 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16620112 |
rs_1064795975 |
3 SubmittersRCV000480747RCV004943925RCV002525917 |
|
NM_024675.4(PALB2):c.3122A>C (p.Lys1041Thr)
|
SNV Germline |
Chr16:23614083 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963418 |
rs_781663559 |
6 SubmittersRCV000478421RCV000635632RCV000708730 |
|
NM_024675.4(PALB2):c.3114-6T>C
|
SNV Germline |
Chr16:23614097 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16620116 |
rs_1064794886 |
3 SubmittersRCV000482960RCV001078733 |
|
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp)
|
SNV Germline |
Chr16:23621421 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 not specified |
Criteria Provided Conflicting Classifications |
CA16620118 |
rs_183489969 |
7 SubmittersRCV000481068RCV000561822RCV000694700RCV001030372RCV002268123 |
|
NM_024675.4(PALB2):c.2875G>T (p.Val959Leu)
|
SNV Germline |
Chr16:23623090 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16620123 |
rs_1064793658 |
4 SubmittersRCV000484497RCV000562675RCV001865437 |
|
NM_024675.4(PALB2):c.2836G>A (p.Ala946Thr)
|
SNV Germline |
Chr16:23623129 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16620124 |
rs_878855113 |
3 SubmittersRCV000484044RCV001305631RCV004943923 |
|
NM_024675.4(PALB2):c.2614G>A (p.Val872Met)
|
SNV Germline |
Chr16:23626370 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16620129 |
rs_1064793628 |
4 SubmittersRCV000484695RCV000696384RCV004659056 |
|
NM_024675.4(PALB2):c.2422G>A (p.Gly808Arg)
|
SNV Germline |
Chr16:23629732 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16620133 |
rs_1064795507 |
5 SubmittersRCV000698122RCV000775954RCV000486954 |
|
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)
|
SNV Germline |
Chr16:23629743 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA7963582 |
rs_149836639 |
7 SubmittersRCV000481392RCV000581656RCV000635655RCV002475930 |
|
NM_024675.4(PALB2):c.2340C>T (p.Gly780=)
|
SNV Germline |
Chr16:23629814 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16620134 |
rs_1064794853 |
4 SubmittersRCV000485867RCV000814645RCV004943920 |
|
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu)
|
SNV Germline |
Chr16:23629828 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963593 |
rs_764925691 |
7 SubmittersRCV000486202RCV000662841RCV001015195 |
|
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala)
|
SNV Germline |
Chr16:23634946 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Chordoma |
Criteria Provided Conflicting Classifications |
CA16620143 |
rs_1064793824 |
5 SubmittersRCV000484915RCV000689372RCV001012375RCV002266967 |
|
NM_024675.4(PALB2):c.1491T>G (p.Asn497Lys)
|
SNV Germline |
Chr16:23635055 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963703 |
rs_374707677 |
3 SubmittersRCV000635954RCV000486048RCV001011852 |
|
NM_024675.4(PALB2):c.1463G>C (p.Ser488Thr)
|
SNV Germline |
Chr16:23635083 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA16620145 |
rs_767926590 |
5 SubmittersRCV000486572RCV000538747RCV002395159RCV003315431 |
|
NM_024675.4(PALB2):c.1337A>G (p.Asp446Gly)
|
SNV Germline |
Chr16:23635209 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963717 |
rs_146434474 |
3 SubmittersRCV000478568RCV001010834RCV000798423 |
|
NM_024675.4(PALB2):c.1179A>G (p.Lys393=)
|
SNV Germline |
Chr16:23635367 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16620151 |
rs_976340416 |
5 SubmittersRCV000480231RCV000567685RCV001396731 |
|
NM_024675.4(PALB2):c.769G>C (p.Gly257Arg)
|
SNV Germline |
Chr16:23635777 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16620155 |
rs_587780824 |
3 SubmittersRCV000485497RCV002402401RCV003607293 |
|
NM_024675.4(PALB2):c.742G>C (p.Val248Leu)
|
SNV Germline |
Chr16:23635804 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA16620157 |
rs_572102702 |
4 SubmittersRCV000478004RCV000635771RCV002383910RCV005355924 |
|
NM_024675.4(PALB2):c.163C>T (p.Gln55Ter)
|
SNV Germline |
Chr16:23637898 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16620162 |
rs_1064793772 |
2 SubmittersRCV000482275RCV003168945 |
|
NM_024675.4(PALB2):c.108+9A>G
|
SNV Germline |
Chr16:23638061 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16620164 |
rs_1064795783 |
2 SubmittersRCV000482406RCV001495481 |
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
SNV Germline |
Chr16:23641138 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA16620166 |
rs_947155109 |
10 SubmittersRCV000702590RCV000483460RCV000571040RCV003226305RCV004527591 |
|
NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)
|
SNV Germline |
Chr16:23635903 |
Pathogenic |
Breast neoplasm Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395136539 |
rs_1555461693 |
2 SubmittersRCV000504603RCV001385716 |
|
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)
|
SNV Germline |
Chr16:23638116 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA7963863 |
rs_769240800 |
9 SubmittersRCV000507280RCV000535566RCV000575810 |
|
NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter)
|
SNV Germline |
Chr16:23607890 |
Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395139372 |
rs_1218512317 |
2 SubmittersRCV000523756RCV003362812 |
|
NM_024675.4(PALB2):c.1685-2A>G
|
SNV Germline |
Chr16:23630471 |
Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA7963669 |
rs_754660432 |
6 SubmittersRCV000519126RCV000568799RCV001037839RCV004527630RCV005411471 |
|
NM_024675.4(PALB2):c.119G>A (p.Arg40Lys)
|
SNV Germline |
Chr16:23637942 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA279501900 |
rs_573118236 |
5 SubmittersRCV000523351RCV001063588RCV000774647RCV003446134 |
|
NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys)
|
SNV Germline |
Chr16:23626388 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA7963516 |
rs_780415750 |
5 SubmittersRCV000536489RCV000759899RCV001187392RCV004596242 |
|
NM_024675.4(PALB2):c.2017G>A (p.Glu673Lys)
|
SNV Germline |
Chr16:23630137 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395127047 |
rs_1236182341 |
3 SubmittersRCV000540647RCV000569513 |
|
NM_024675.4(PALB2):c.1643C>T (p.Ser548Leu)
|
SNV Germline |
Chr16:23634903 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395130164 |
rs_1241049372 |
3 SubmittersRCV000547156RCV000571222RCV002259347 |
|
NM_024675.4(PALB2):c.1133C>T (p.Pro378Leu)
|
SNV Germline |
Chr16:23635413 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395133627 |
rs_1442895662 |
4 SubmittersRCV000526864RCV002448657RCV002293450 |
|
NM_024675.4(PALB2):c.1004A>G (p.Asn335Ser)
|
SNV Germline |
Chr16:23635542 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395134568 |
rs_1368473544 |
4 SubmittersRCV000554257RCV000777235RCV004719858 |
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
SNV Germline |
Chr16:23636323 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA395138968 |
rs_1555461875 |
9 SubmittersRCV000557714RCV001014881RCV001008028RCV005357565 |
|
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)
|
SNV Germline |
Chr16:23603584 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395138158 |
rs_879254033 |
3 SubmittersRCV000533343RCV002456088 |
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
SNV Germline |
Chr16:23607890 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395139370 |
rs_1218512317 |
7 SubmittersRCV000550532RCV001019991RCV004592566 |
|
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)
|
SNV Germline |
Chr16:23603544 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA279524947 |
rs_587782050 |
6 SubmittersRCV000547300RCV000564987RCV003317262RCV003329296 |
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
SNV Germline |
Chr16:23624022 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA7963481 |
rs_778602038 |
9 SubmittersRCV000534984RCV000759902RCV000572648RCV005004225 |
|
NM_024675.4(PALB2):c.2515-3C>T
|
SNV Germline |
Chr16:23629278 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA279491568 |
rs_957106428 |
4 SubmittersRCV000543762RCV001015746RCV001775854 |
|
NM_024675.4(PALB2):c.2290A>G (p.Lys764Glu)
|
SNV Germline |
Chr16:23629864 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963599 |
rs_573744591 |
3 SubmittersRCV000551829RCV000771302 |
|
NM_024675.4(PALB2):c.1765A>G (p.Thr589Ala)
|
SNV Germline |
Chr16:23630389 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395128203 |
rs_1437053825 |
4 SubmittersRCV000550043RCV001013028RCV003478137 |
|
NM_024675.4(PALB2):c.1471G>A (p.Ala491Thr)
|
SNV Germline |
Chr16:23635075 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA279498326 |
rs_577969558 |
5 SubmittersRCV000555891RCV000563308RCV001545090 |
|
NM_024675.4(PALB2):c.1082C>G (p.Thr361Ser)
|
SNV Germline |
Chr16:23635464 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395133936 |
rs_1345668733 |
2 SubmittersRCV000557004RCV005384760 |
|
NM_024675.4(PALB2):c.1061C>G (p.Ser354Cys)
|
SNV Germline |
Chr16:23635485 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395134068 |
rs_1555461474 |
2 SubmittersRCV000532399RCV005384759 |
|
NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu)
|
SNV Germline |
Chr16:23635480 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Familial pancreatic carcinoma Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395134035 |
rs_1202130508 |
9 SubmittersRCV000544610RCV000575442RCV001174761RCV005357564RCV001538610 |
|
NM_024675.4(PALB2):c.931A>G (p.Lys311Glu)
|
SNV Germline |
Chr16:23635615 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395135258 |
rs_1060499831 |
5 SubmittersRCV000528073RCV000564202RCV001584261 |
|
NM_024675.4(PALB2):c.935G>A (p.Ser312Asn)
|
SNV Germline |
Chr16:23635611 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395135226 |
rs_1407319475 |
4 SubmittersRCV000553560RCV000567058RCV001800745 |
|
NM_024675.4(PALB2):c.892G>A (p.Val298Ile)
|
SNV Germline |
Chr16:23635654 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA395135620 |
rs_1060502765 |
5 SubmittersRCV000551680RCV000563746RCV001800744RCV005357568 |
|
NM_024675.4(PALB2):c.828C>T (p.His276=)
|
SNV Germline |
Chr16:23635718 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial ovarian cancer Fanconi anemia complementation group N Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA279499381 |
rs_911713488 |
9 SubmittersRCV000557022RCV000567452RCV001171908RCV001357885RCV001118311RCV001354533 |
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
SNV Germline |
Chr16:23635828 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA7963768 |
rs_757567654 |
5 SubmittersRCV000530439RCV000568617RCV001030167RCV001118312 |
|
NM_024675.4(PALB2):c.566G>T (p.Arg189Ile)
|
SNV Germline |
Chr16:23635980 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963780 |
rs_764180110 |
3 SubmittersRCV000535087RCV001189068 |
|
NM_024675.4(PALB2):c.406A>T (p.Ser136Cys)
|
SNV Germline |
Chr16:23636140 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA7963796 |
rs_144496685 |
5 SubmittersRCV000542390RCV001021800RCV004525963 |
|
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)
|
SNV Germline |
Chr16:23603626 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA494173743 |
rs_1282821765 |
7 SubmittersRCV000528385RCV000602592RCV001121623RCV001020184RCV001796099 |
|
NM_024675.4(PALB2):c.2452T>C (p.Phe818Leu)
|
SNV Germline |
Chr16:23629702 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395124159 |
rs_1555460328 |
3 SubmittersRCV000546200RCV001180795 |
|
NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter)
|
SNV Germline |
Chr16:23630452 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395128442 |
rs_876659354 |
3 SubmittersRCV000549307RCV002413486 |
|
NM_024675.4(PALB2):c.1507G>C (p.Ala503Pro)
|
SNV Germline |
Chr16:23635039 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395131030 |
rs_1555461243 |
5 SubmittersRCV000540105RCV000579884RCV001755821 |
|
NM_024675.4(PALB2):c.1458A>G (p.Lys486=)
|
SNV Germline |
Chr16:23635088 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA494461445 |
rs_1555461270 |
4 SubmittersRCV000526724RCV000985885RCV004943959 |
|
NM_024675.4(PALB2):c.1192G>A (p.Val398Met)
|
SNV Germline |
Chr16:23635354 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963726 |
rs_769097541 |
5 SubmittersRCV000553689RCV000771520RCV001030202 |
|
NM_024675.4(PALB2):c.1165C>G (p.Leu389Val)
|
SNV Germline |
Chr16:23635381 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395133462 |
rs_1555461427 |
4 SubmittersRCV000552765RCV000777229RCV003236811 |
|
NM_024675.4(PALB2):c.290C>A (p.Ser97Tyr)
|
SNV Germline |
Chr16:23636256 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963804 |
rs_776902295 |
3 SubmittersRCV000554765RCV000580967 |
|
NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)
|
SNV Germline |
Chr16:23614040 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395141266 |
rs_876658157 |
3 SubmittersRCV000565155RCV003451225 |
|
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)
|
SNV Germline |
Chr16:23623045 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395144193 |
rs_1418709183 |
5 SubmittersRCV000568691RCV000817606RCV002491131RCV003128630 |
|
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)
|
SNV Germline |
Chr16:23603520 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA395137900 |
rs_1308784980 |
8 SubmittersRCV000571848RCV000635737RCV000756459RCV005018978 |
|
NM_024675.4(PALB2):c.2580G>T (p.Glu860Asp)
|
SNV Germline |
Chr16:23629210 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA395123652 |
rs_1348398121 |
5 SubmittersRCV000562114RCV000704755RCV005357695 |
|
NM_024675.4(PALB2):c.2509G>C (p.Glu837Gln)
|
SNV Germline |
Chr16:23629645 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395123935 |
rs_587778587 |
4 SubmittersRCV000566274RCV001305394RCV004592701 |
|
NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro)
|
SNV Germline |
Chr16:23623012 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963462 |
rs_139726856 |
4 SubmittersRCV000572069RCV000635674 |
|
NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly)
|
SNV Germline |
Chr16:23623107 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395144455 |
rs_1555459583 |
5 SubmittersRCV000564938RCV000814534RCV003478226 |
|
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)
|
SNV Germline |
Chr16:23629909 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Multiple Submitters No Conflicts |
CA395125490 |
rs_1555460431 |
5 SubmittersRCV000568921RCV001242094RCV003338667 |
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
SNV Germline |
Chr16:23629936 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395125558 |
rs_1555460445 |
7 SubmittersRCV000567438RCV000989559RCV000587693RCV003318598 |
|
NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter)
|
SNV Germline |
Chr16:23624056 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395145066 |
rs_876660669 |
1 SubmittersRCV000568858 |
|
NM_024675.4(PALB2):c.2749-2A>C
|
SNV Germline |
Chr16:23624096 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395145283 |
rs_1555459747 |
3 SubmittersRCV000574502RCV001858134 |
|
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)
|
SNV Germline |
Chr16:23630209 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395127417 |
rs_1555460579 |
4 SubmittersRCV000563292RCV001224726 |
|
NM_024675.4(PALB2):c.3350+4A>C
|
SNV Germline |
Chr16:23607860 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA658658454 |
rs_180177136 |
2 SubmittersRCV000565846RCV000701534 |
|
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile)
|
SNV Germline |
Chr16:23614004 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395141087 |
rs_1555458809 |
4 SubmittersRCV000561229RCV000635884 |
|
NM_024675.4(PALB2):c.3091A>G (p.Ile1031Val)
|
SNV Germline |
Chr16:23621384 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963438 |
rs_757946618 |
2 SubmittersRCV000561086 |
|
NM_024675.4(PALB2):c.2221G>A (p.Gly741Ser)
|
SNV Germline |
Chr16:23629933 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395125550 |
rs_1555460440 |
5 SubmittersRCV000565945RCV000690008RCV001030287 |
|
NM_024675.4(PALB2):c.1783G>A (p.Asp595Asn)
|
SNV Germline |
Chr16:23630371 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395128128 |
rs_1555460653 |
2 SubmittersRCV000561858RCV000804639 |
|
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)
|
SNV Germline |
Chr16:23630128 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963636 |
rs_761478794 |
6 SubmittersRCV000563462RCV000764049RCV000989562 |
|
NM_024675.4(PALB2):c.2748+1G>A
|
SNV Germline |
Chr16:23626235 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Multiple Submitters No Conflicts |
CA279488993 |
rs_753153576 |
8 SubmittersRCV000563623RCV001234382RCV000985891RCV005018988 |
|
NM_024675.4(PALB2):c.1684+1G>T
|
SNV Germline |
Chr16:23634861 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395129863 |
rs_1555461148 |
4 SubmittersRCV000572683RCV002221556RCV003485609 |
|
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)
|
SNV Germline |
Chr16:23626352 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395122165 |
rs_1555459999 |
4 SubmittersRCV000561696RCV000635833RCV001030334 |
|
NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys)
|
SNV Germline |
Chr16:23634886 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA7963687 |
rs_377486858 |
5 SubmittersRCV000565852RCV001053537RCV001584375RCV005231088 |
|
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)
|
SNV Germline |
Chr16:23629693 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA279492004 |
rs_958566673 |
7 SubmittersRCV000561459RCV001240791RCV003151105 |
|
NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn)
|
SNV Germline |
Chr16:23635040 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963701 |
rs_371142570 |
4 SubmittersRCV000563604RCV000691734 |
|
NM_024675.4(PALB2):c.2402A>G (p.Asp801Gly)
|
SNV Germline |
Chr16:23629752 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395124448 |
rs_1555460348 |
3 SubmittersRCV000563156RCV001306017 |
|
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)
|
SNV Germline |
Chr16:23635219 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395132293 |
rs_1555461339 |
3 SubmittersRCV000574863RCV000814465 |
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
SNV Germline |
Chr16:23629920 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Carcinoma of colon Condition: not provided Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA7963609 |
rs_142343372 |
9 SubmittersRCV000566180RCV000689640RCV001030288RCV001775883RCV002491122 |
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
SNV Germline |
Chr16:23634871 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Gastric cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA395129920 |
rs_1555461154 |
8 SubmittersRCV000566479RCV000989568RCV001800773RCV003159958 |
|
NM_024675.4(PALB2):c.2042A>C (p.Lys681Thr)
|
SNV Germline |
Chr16:23630112 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395126889 |
rs_1555460514 |
3 SubmittersRCV000570278RCV001035439 |
|
NM_024675.4(PALB2):c.1994A>T (p.Asp665Val)
|
SNV Germline |
Chr16:23630160 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395127211 |
rs_1555460531 |
3 SubmittersRCV000563467RCV001324301 |
|
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)
|
SNV Germline |
Chr16:23630321 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963656 |
rs_779184831 |
8 SubmittersRCV000575169RCV000586706RCV000801789 |
|
NM_024675.4(PALB2):c.481G>C (p.Asp161His)
|
SNV Germline |
Chr16:23636065 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963788 |
rs_769841151 |
6 SubmittersRCV000566918RCV000817677RCV002268179RCV003318597 |
|
NM_024675.4(PALB2):c.371C>T (p.Thr124Ile)
|
SNV Germline |
Chr16:23636175 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA279500159 |
rs_45457297 |
4 SubmittersRCV000562435RCV000693977RCV003235296RCV004689798 |
|
NM_024675.4(PALB2):c.1012C>A (p.Pro338Thr)
|
SNV Germline |
Chr16:23635534 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395134450 |
rs_560853558 |
2 SubmittersRCV000566139RCV001858211 |
|
NM_024675.4(PALB2):c.1243A>C (p.Ser415Arg)
|
SNV Germline |
Chr16:23635303 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395132937 |
rs_1555461376 |
2 SubmittersRCV000570108RCV001039556 |
|
NM_024675.4(PALB2):c.854C>G (p.Ser285Ter)
|
SNV Germline |
Chr16:23635692 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395135849 |
rs_180177094 |
1 SubmittersRCV000561198 |
|
NM_024675.4(PALB2):c.1176A>G (p.Glu392=)
|
SNV Germline |
Chr16:23635370 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA494461843 |
rs_1555461423 |
5 SubmittersRCV000570728RCV001423280RCV003321674 |
|
NM_024675.4(PALB2):c.808A>G (p.Ser270Gly)
|
SNV Germline |
Chr16:23635738 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395136000 |
rs_1347076714 |
5 SubmittersRCV000563900RCV000807027RCV000985895 |
|
NM_024675.4(PALB2):c.43G>A (p.Glu15Lys)
|
SNV Germline |
Chr16:23641115 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395141028 |
rs_730881884 |
4 SubmittersRCV000571125RCV000635761RCV004800469 |
|
NM_024675.4(PALB2):c.22C>T (p.Pro8Ser)
|
SNV Germline |
Chr16:23641136 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395141151 |
rs_876660586 |
2 SubmittersRCV000575831RCV001858135 |
|
NM_024675.4(PALB2):c.736A>T (p.Thr246Ser)
|
SNV Germline |
Chr16:23635810 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395136241 |
rs_1555461659 |
5 SubmittersRCV000567314RCV000699347RCV001775886 |
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
SNV Germline |
Chr16:23635986 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA7963781 |
rs_371582757 |
11 SubmittersRCV000563795RCV000635903RCV002476221RCV003448324RCV003492103 |
|
NM_024675.4(PALB2):c.509G>C (p.Arg170Thr)
|
SNV Germline |
Chr16:23636037 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA279499902 |
rs_898765598 |
7 SubmittersRCV000564267RCV000818311RCV001030155 |
|
NM_024675.4(PALB2):c.193C>G (p.Pro65Ala)
|
SNV Germline |
Chr16:23637868 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395139040 |
rs_1229828972 |
2 SubmittersRCV000564430RCV000704290 |
|
NM_024675.4(PALB2):c.850A>G (p.Thr284Ala)
|
SNV Germline |
Chr16:23635696 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395135866 |
rs_1555461584 |
4 SubmittersRCV000575140RCV001030183RCV003607310 |
|
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)
|
SNV Germline |
Chr16:23635864 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA395136420 |
rs_1327399690 |
5 SubmittersRCV000573011RCV000635756RCV003987611 |
|
NM_024675.4(PALB2):c.280G>C (p.Glu94Gln)
|
SNV Germline |
Chr16:23636266 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395138842 |
rs_45602040 |
2 SubmittersRCV000566283RCV001853787 |
|
NM_024675.4(PALB2):c.233T>C (p.Val78Ala)
|
SNV Germline |
Chr16:23636313 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395138944 |
rs_1313634930 |
4 SubmittersRCV000575076RCV001044744 |
|
NM_024675.4(PALB2):c.7G>A (p.Glu3Lys)
|
SNV Germline |
Chr16:23641151 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395141243 |
rs_878855123 |
2 SubmittersRCV000561851RCV001064138 |
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
SNV Germline |
Chr16:23614075 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395141418 |
rs_766394024 |
5 SubmittersRCV000565870RCV000700246RCV003155951 |
|
NM_024675.4(PALB2):c.2834+1G>C
|
SNV Germline |
Chr16:23624008 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395144749 |
rs_587776419 |
3 SubmittersRCV000569964RCV001858210RCV003320696 |
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
SNV Germline |
Chr16:23629642 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395123923 |
rs_750650768 |
6 SubmittersRCV000561038RCV001053672RCV001553686 |
|
NM_024675.4(PALB2):c.2503T>A (p.Ser835Thr)
|
SNV Germline |
Chr16:23629651 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395123952 |
rs_1343435250 |
2 SubmittersRCV000562867RCV001858209 |
|
NM_024675.4(PALB2):c.2494C>T (p.His832Tyr)
|
SNV Germline |
Chr16:23629660 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA279491908 |
rs_901786175 |
4 SubmittersRCV000568602RCV000635698RCV001174939 |
|
NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr)
|
SNV Germline |
Chr16:23630271 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA279493367 |
rs_954390684 |
6 SubmittersRCV000570203RCV000706639RCV001584379RCV004800473 |
|
NM_024675.4(PALB2):c.1784A>G (p.Asp595Gly)
|
SNV Germline |
Chr16:23630370 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395128119 |
rs_1555460652 |
2 SubmittersRCV000571419RCV000812280 |
|
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)
|
SNV Germline |
Chr16:23634898 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395130127 |
rs_1555461178 |
3 SubmittersRCV000569937RCV001853819 |
|
NM_024675.4(PALB2):c.1562C>T (p.Thr521Ile)
|
SNV Germline |
Chr16:23634984 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395130739 |
rs_1555461218 |
2 SubmittersRCV000571175RCV001304806 |
|
NM_024675.4(PALB2):c.1377C>A (p.Asp459Glu)
|
SNV Germline |
Chr16:23635169 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963712 |
rs_771002573 |
3 SubmittersRCV000564673RCV001218569 |
|
NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn)
|
SNV Germline |
Chr16:23635254 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA395132501 |
rs_1555461357 |
4 SubmittersRCV000561985RCV000635950RCV000780557 |
|
NM_024675.4(PALB2):c.1141C>T (p.Leu381Phe)
|
SNV Germline |
Chr16:23635405 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395133592 |
rs_1555461435 |
2 SubmittersRCV000566800RCV001239808 |
|
NM_024675.4(PALB2):c.814G>T (p.Glu272Ter)
|
SNV Germline |
Chr16:23635732 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395135986 |
rs_515726127 |
1 SubmittersRCV000562700 |
|
NM_024675.4(PALB2):c.505C>G (p.Leu169Val)
|
SNV Germline |
Chr16:23636041 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395137027 |
rs_180177086 |
2 SubmittersRCV000575213RCV001345557 |
|
NM_024675.4(PALB2):c.349C>A (p.Pro117Thr)
|
SNV Germline |
Chr16:23636197 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA395137687 |
rs_1413238389 |
6 SubmittersRCV000567477RCV000684939RCV003237929RCV003444602 |
|
NM_024675.4(PALB2):c.187C>G (p.Leu63Val)
|
SNV Germline |
Chr16:23637874 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963829 |
rs_730881899 |
2 SubmittersRCV000575025RCV001858327 |
|
NM_024675.4(PALB2):c.90G>A (p.Lys30=)
|
SNV Germline |
Chr16:23638088 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA494167972 |
rs_515726130 |
4 SubmittersRCV000566824RCV001444109RCV003478215 |
|
NM_024675.4(PALB2):c.48+1G>A
|
SNV Germline |
Chr16:23641109 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395140998 |
rs_515726118 |
5 SubmittersRCV000561202RCV000635645RCV000708619 |
|
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)
|
SNV Unknown |
Chr16:23635680 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395135804 |
rs_1555461574 |
2 SubmittersRCV000576557 |
|
NM_024675.4(PALB2):c.1538C>T (p.Thr513Ile)
|
SNV Germline |
Chr16:23635008 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963699 |
rs_778890869 |
5 SubmittersRCV000580586RCV000635783RCV001030236 |
|
NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg)
|
SNV Germline |
Chr16:23603641 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Ovarian cancer Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA7963346 |
rs_767830005 |
11 SubmittersRCV000579960RCV000701458RCV001030414RCV003153752RCV005019004RCV005367434 |
|
NM_024675.4(PALB2):c.1684+11A>G
|
SNV Germline |
Chr16:23634851 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963684 |
rs_201368043 |
3 SubmittersRCV000580824RCV001121720RCV001860051 |
|
NM_024675.4(PALB2):c.109-12T>A
|
SNV Germline |
Chr16:23637964 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided PALB2-related cancer predisposition Fanconi anemia complementation group N |
Criteria Provided Multiple Submitters No Conflicts |
CA7963843 |
rs_774949203 |
8 SubmittersRCV000579887RCV000794723RCV001030120RCV005357727RCV003133384 |
|
NM_024675.4(PALB2):c.2500C>T (p.His834Tyr)
|
SNV Germline |
Chr16:23629654 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395123962 |
rs_1555460308 |
3 SubmittersRCV000579392RCV001853887 |
|
NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln)
|
SNV Germline |
Chr16:23630382 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963662 |
rs_761773470 |
4 SubmittersRCV000581038RCV000809631 |
|
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)
|
SNV Germline |
Chr16:23621408 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395142961 |
rs_1555459386 |
3 SubmittersRCV000584638RCV000803999RCV001269180 |
|
NM_024675.4(PALB2):c.211+1G>A
|
SNV Germline |
Chr16:23637849 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA395139005 |
rs_1555462026 |
8 SubmittersRCV000581906RCV000989582RCV002466544RCV005357759 |
|
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
SNV Germline |
Chr16:23614039 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA279530832 |
rs_1021662947 |
7 SubmittersRCV000581301RCV001038568RCV003159983RCV005256644 |
|
NM_024675.4(PALB2):c.2996+14T>G
|
SNV Germline |
Chr16:23622955 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast PALB2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA621661650 |
rs_1407045774 |
4 SubmittersRCV000583916RCV001116751RCV002061896RCV005357760 |
|
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)
|
SNV Germline |
Chr16:23635319 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494461670 |
rs_1555461386 |
8 SubmittersRCV000581501RCV000600139RCV000759892RCV001451262 |
|
NM_024675.4(PALB2):c.1148T>C (p.Leu383Pro)
|
SNV Germline |
Chr16:23635398 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395133557 |
rs_1555461432 |
2 SubmittersRCV000584423 |
|
NM_024675.4(PALB2):c.3350+2C>G
|
SNV Germline |
Chr16:23607862 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395139182 |
rs_1555458171 |
5 SubmittersRCV000582943RCV001361268 |
|
NM_024675.4(PALB2):c.3113+17G>T
|
SNV Germline |
Chr16:23621345 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA621356238 |
rs_1451806881 |
4 SubmittersRCV000581411RCV000609993RCV001853933 |
|
NM_024675.4(PALB2):c.2515-7T>G
|
SNV Germline |
Chr16:23629282 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA658683922 |
rs_1555460231 |
3 SubmittersRCV000582208RCV002530804 |
|
NM_024675.4(PALB2):c.-10C>T
|
SNV Germline |
Chr16:23641167 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA279505441 |
rs_1038099508 |
6 SubmittersRCV000583508RCV001712601RCV005357758 |
|
NM_024675.4(PALB2):c.1301A>C (p.Asp434Ala)
|
SNV Germline |
Chr16:23635245 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963721 |
rs_757972600 |
3 SubmittersRCV000581417RCV001345251 |
|
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu)
|
SNV Germline |
Chr16:23636243 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA395138797 |
rs_1417779335 |
5 SubmittersRCV000583166RCV001800806RCV003133386RCV005019008 |
|
NM_024675.4(PALB2):c.2749-1G>T
|
SNV Germline |
Chr16:23624095 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA16609292 |
rs_1060502804 |
4 SubmittersRCV000581632RCV000824261 |
|
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)
|
SNV Germline |
Chr16:23626311 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395122040 |
rs_78179744 |
5 SubmittersRCV000582849RCV002529275 |
|
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)
|
SNV Germline |
Chr16:23629690 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395124102 |
rs_1555460323 |
5 SubmittersRCV000581596RCV002268211RCV003451307 |
|
NM_024675.4(PALB2):c.2437A>C (p.Ile813Leu)
|
SNV Germline |
Chr16:23629717 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963574 |
rs_766396469 |
4 SubmittersRCV000584188RCV000699252RCV001567582 |
|
NM_024675.4(PALB2):c.1940A>T (p.His647Leu)
|
SNV Germline |
Chr16:23630214 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA395127436 |
rs_1055533509 |
5 SubmittersRCV000582747RCV000695699RCV001755976RCV002282244 |
|
NM_024675.4(PALB2):c.1685-7T>G
|
SNV Germline |
Chr16:23630476 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA658683933 |
rs_1555460705 |
5 SubmittersRCV000582581RCV000663169RCV004767419 |
|
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)
|
SNV Germline |
Chr16:23634949 |
Conflicting classifications of pathogenicity |
Breast carcinoma Familial cancer of breast Malignant tumor of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395130540 |
rs_1393117824 |
6 SubmittersRCV000626962RCV000815815RCV001356890RCV003478331RCV001012327 |
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
SNV Germline |
Chr16:23603497 |
Pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395137833 |
rs_1555457841 |
5 SubmittersRCV000635687RCV001702535RCV002334080 |
|
NM_024675.4(PALB2):c.2834+5G>A
|
SNV Germline |
Chr16:23624004 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA7963478 |
rs_570455216 |
5 SubmittersRCV000635658RCV001016729RCV004723006 |
|
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter)
|
SNV Germline |
Chr16:23626290 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395121972 |
rs_1555459949 |
2 SubmittersRCV000635736 |
|
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter)
|
SNV Germline |
Chr16:23626334 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395122125 |
rs_1304351755 |
7 SubmittersRCV000635848RCV005416117RCV000760341 |
|
NM_024675.4(PALB2):c.2345C>A (p.Pro782Gln)
|
SNV Germline |
Chr16:23629809 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963590 |
rs_772095244 |
3 SubmittersRCV000635803RCV002424398 |
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
SNV Germline |
Chr16:23603526 |
Pathogenic/Likely pathogenic |
Breast and/or ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395137923 |
rs_773829275 |
5 SubmittersRCV001270994RCV000635924RCV003303005 |
|
NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr)
|
SNV Germline |
Chr16:23622976 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395143864 |
rs_1555459513 |
6 SubmittersRCV000776383RCV000635883RCV001192766RCV004721509 |
|
NM_024675.4(PALB2):c.157G>A (p.Glu53Lys)
|
SNV Germline |
Chr16:23637904 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395139231 |
rs_1184603042 |
5 SubmittersRCV000635779RCV000709389 |
|
NM_024675.4(PALB2):c.2748+8G>A
|
SNV Germline |
Chr16:23626228 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA621661861 |
rs_1188895680 |
4 SubmittersRCV000636047RCV001182085RCV005357839 |
|
NM_024675.4(PALB2):c.2587-7G>A
|
SNV Germline |
Chr16:23626404 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA279489186 |
rs_932395531 |
4 SubmittersRCV000635604RCV003584684RCV001558518 |
|
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)
|
SNV Germline |
Chr16:23630170 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395127256 |
rs_1555460533 |
4 SubmittersRCV000635787RCV001190673 |
|
NM_024675.4(PALB2):c.1685-3T>C
|
SNV Germline |
Chr16:23630472 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA658798577 |
rs_1254059410 |
5 SubmittersRCV000635992RCV003128674RCV002404773 |
|
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)
|
SNV Germline |
Chr16:23635098 |
Pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395131234 |
rs_1057520736 |
4 SubmittersRCV000635841RCV001591416RCV002388041 |
|
NM_024675.4(PALB2):c.932A>G (p.Lys311Arg)
|
SNV Germline |
Chr16:23635614 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA7963744 |
rs_755129205 |
5 SubmittersRCV000635946RCV001030189RCV001019174RCV001194138 |
|
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)
|
SNV Germline |
Chr16:23629887 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA279492499 |
rs_925044785 |
8 SubmittersRCV000635807RCV001014983RCV001030292RCV003133422 |
|
NM_024675.4(PALB2):c.926T>G (p.Ile309Arg)
|
SNV Germline |
Chr16:23635620 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA279499141 |
rs_201588519 |
3 SubmittersRCV000635796RCV001189067 |
|
NM_024675.4(PALB2):c.846A>T (p.Arg282Ser)
|
SNV Germline |
Chr16:23635700 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395135882 |
rs_1555461587 |
3 SubmittersRCV000635901RCV002448970 |
|
NM_024675.4(PALB2):c.2968G>C (p.Glu990Gln)
|
SNV Germline |
Chr16:23622997 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395143969 |
rs_876659036 |
3 SubmittersRCV000635602RCV001796150RCV002438681 |
|
NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter)
|
SNV Germline |
Chr16:23623096 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395144397 |
rs_515726103 |
1 SubmittersRCV000635650 |
|
NM_024675.4(PALB2):c.1607T>C (p.Leu536Pro)
|
SNV Germline |
Chr16:23634939 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395130490 |
rs_1555461198 |
3 SubmittersRCV000635825RCV003233767RCV004649235 |
|
NM_024675.4(PALB2):c.109-5T>C
|
SNV Germline |
Chr16:23637957 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963841 |
rs_749299119 |
7 SubmittersRCV001030121RCV001017270RCV001706691 |
|
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)
|
SNV Germline |
Chr16:23603579 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Condition: not provided Malignant tumor of breast PALB2-related disorder Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA395138136 |
rs_1555457867 |
10 SubmittersRCV001213219RCV000657758RCV004526734RCV004740390RCV002458171RCV005019096 |
|
NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter)
|
SNV Germline |
Chr16:23603595 |
Pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395138197 |
rs_1555457878 |
2 SubmittersRCV000657760RCV001234062 |
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
SNV Germline |
Chr16:23635258 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395132531 |
rs_1555461358 |
5 SubmittersRCV000657764RCV000662965RCV002386129 |
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
SNV Germline |
Chr16:23636071 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395137122 |
rs_1555461788 |
3 SubmittersRCV000662619 |
|
NM_024675.4(PALB2):c.212-2A>T
|
SNV Unknown |
Chr16:23636336 |
Likely pathogenic |
Familial cancer of breast |
No Assertion Criteria Provided |
CA395139000 |
rs_730881879 |
1 SubmittersRCV000662995 |
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
SNV Germline |
Chr16:23635768 |
Pathogenic |
Neuroendocrine tumor of pancreas Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395136081 |
rs_1555461627 |
5 SubmittersRCV000677896RCV003453394RCV002406519 |
|
NM_024675.4(PALB2):c.2515-11T>C
|
SNV Germline |
Chr16:23629286 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963546 |
rs_780521904 |
6 SubmittersRCV000679764RCV000771301RCV002066995 |
|
NM_024675.4(PALB2):c.1991T>G (p.Met664Arg)
|
SNV Germline |
Chr16:23630163 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395127223 |
rs_945657254 |
3 SubmittersRCV001013949RCV000679762RCV000801768 |
|
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
SNV Germline |
Chr16:23607874 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395139278 |
rs_1567206756 |
5 SubmittersRCV000700359RCV000708618 |
|
NM_024675.4(PALB2):c.3262C>T (p.Pro1088Ser)
|
SNV Germline |
Chr16:23607952 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395139751 |
rs_1060502777 |
2 SubmittersRCV000691622RCV001019527 |
|
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)
|
SNV Germline |
Chr16:23629250 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA395123812 |
rs_1567216902 |
4 SubmittersRCV000686106RCV001015881RCV002485597 |
|
NM_024675.4(PALB2):c.97G>C (p.Ala33Pro)
|
SNV Germline |
Chr16:23638081 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA395139652 |
rs_747302288 |
2 SubmittersRCV000689943RCV003483707 |
|
NM_024675.4(PALB2):c.3350+6T>C
|
SNV Germline |
Chr16:23607858 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA891843570 |
rs_1567206733 |
1 SubmittersRCV000704793 |
|
NM_024675.4(PALB2):c.2515-1G>A
|
SNV Germline |
Chr16:23629276 |
Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 3 Breast cancer, susceptibility to |
Criteria Provided Multiple Submitters No Conflicts |
CA395123879 |
rs_587776417 |
5 SubmittersRCV000707120RCV001015744RCV001258101 |
|
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)
|
SNV Germline |
Chr16:23635396 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395133552 |
rs_1567221497 |
4 SubmittersRCV000693232RCV002493183RCV001181141 |
|
NM_024675.4(PALB2):c.938G>A (p.Gly313Asp)
|
SNV Germline |
Chr16:23635608 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395135187 |
rs_1555461531 |
2 SubmittersRCV000704478RCV005463103 |
|
NM_024675.4(PALB2):c.113C>T (p.Ala38Val)
|
SNV Germline |
Chr16:23637948 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Ovarian cancer Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA7963837 |
rs_371875379 |
5 SubmittersRCV000694173RCV000774648RCV003153807RCV002477574 |
|
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)
|
SNV Germline |
Chr16:23621438 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395143060 |
rs_1567212950 |
4 SubmittersRCV000695855RCV001030369RCV002507213RCV003362904 |
|
NM_024675.4(PALB2):c.2698G>C (p.Ala900Pro)
|
SNV Germline |
Chr16:23626286 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395121953 |
rs_1555459946 |
4 SubmittersRCV000691295RCV001016341RCV001729686 |
|
NM_024675.4(PALB2):c.2273C>T (p.Pro758Leu)
|
SNV Germline |
Chr16:23629881 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA7963603 |
rs_746117401 |
6 SubmittersRCV000700574RCV001284196RCV002442498RCV004527749 |
|
NM_024675.4(PALB2):c.1006A>C (p.Asn336His)
|
SNV Germline |
Chr16:23635540 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA395134551 |
rs_1060502774 |
5 SubmittersRCV000701789RCV000985881RCV002422574RCV003479202 |
|
NM_024675.4(PALB2):c.3342G>C (p.Gln1114His)
|
SNV Germline |
Chr16:23607872 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395139263 |
rs_1567206753 |
3 SubmittersRCV000707157RCV000776589 |
|
NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe)
|
SNV Germline |
Chr16:23626339 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395122138 |
rs_45486906 |
3 SubmittersRCV000704896RCV001184091 |
|
NM_024675.4(PALB2):c.2813A>G (p.Asn938Ser)
|
SNV Germline |
Chr16:23624030 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395144893 |
rs_1567214357 |
5 SubmittersRCV000708729RCV000802486RCV002298749 |
|
NM_024675.4(PALB2):c.1152A>G (p.Glu384=)
|
SNV Germline |
Chr16:23635394 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494461920 |
rs_1567221490 |
3 SubmittersRCV000708727RCV005422950 |
|
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)
|
SNV Germline |
Chr16:23635678 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395135793 |
rs_1567222143 |
4 SubmittersRCV000708621RCV000794070 |
|
NM_024675.4(PALB2):c.49-1G>A
|
SNV Germline |
Chr16:23638130 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395140039 |
rs_1440838364 |
4 SubmittersRCV000708620RCV005092051 |
|
NM_024675.4(PALB2):c.2587-1G>C
|
SNV Germline |
Chr16:23626398 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA7963519 |
rs_761214886 |
7 SubmittersRCV000709380RCV000989555RCV001759427RCV005357957 |
|
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)
|
SNV Germline |
Chr16:23638128 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395140021 |
rs_1567224232 |
4 SubmittersRCV000709390RCV000989583 |
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
SNV Germline |
Chr16:23629962 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395125606 |
rs_1567217898 |
6 SubmittersRCV000755035RCV001855858RCV001354086 |
|
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)
|
SNV Germline |
Chr16:23630235 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395127515 |
rs_760094988 |
5 SubmittersRCV000756460RCV003453539RCV002406678 |
|
NM_024675.4(PALB2):c.1941T>C (p.His647=)
|
SNV Germline |
Chr16:23630213 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963643 |
rs_745467835 |
5 SubmittersRCV000759182RCV000781683RCV001080752RCV002406684 |
|
NM_024675.4(PALB2):c.1673T>C (p.Ile558Thr)
|
SNV Germline |
Chr16:23634873 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963686 |
rs_766583287 |
4 SubmittersRCV000759897RCV001340380RCV003166013 |
|
NM_024675.4(PALB2):c.1046A>C (p.Asn349Thr)
|
SNV Germline |
Chr16:23635500 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395134191 |
rs_1567221740 |
3 SubmittersRCV000759891RCV000806524RCV003279043 |
|
NM_024675.4(PALB2):c.613G>T (p.Glu205Ter)
|
SNV Germline |
Chr16:23635933 |
Likely pathogenic |
Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395136640 |
rs_1567222636 |
2 SubmittersRCV000759192 |
|
NM_024675.4(PALB2):c.379C>T (p.His127Tyr)
|
SNV Germline |
Chr16:23636167 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA279500141 |
rs_1056494105 |
4 SubmittersRCV000759189RCV001021174RCV002533132 |
|
NM_024675.4(PALB2):c.48+10G>A
|
SNV Germline |
Chr16:23641100 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast PALB2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA913190540 |
rs_1311681895 |
4 SubmittersRCV000759190RCV001472512RCV005367536 |
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
SNV Germline |
Chr16:23623099 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395144411 |
rs_1219715328 |
4 SubmittersRCV000772898RCV001388158 |
|
NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile)
|
SNV Germline |
Chr16:23629268 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395123851 |
rs_1373085553 |
3 SubmittersRCV000773403RCV003768340 |
|
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)
|
SNV Germline |
Chr16:23629818 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA395124994 |
rs_764509489 |
4 SubmittersRCV000773204RCV000819396RCV002507340 |
|
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)
|
SNV Germline |
Chr16:23630157 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA395127183 |
rs_1567218311 |
5 SubmittersRCV000777409RCV001869122RCV002477779RCV005358024 |
|
NM_024675.4(PALB2):c.1878A>G (p.Lys626=)
|
SNV Germline |
Chr16:23630276 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494461216 |
rs_1567218624 |
3 SubmittersRCV000774266RCV001468975 |
|
NM_024675.4(PALB2):c.1673T>G (p.Ile558Ser)
|
SNV Germline |
Chr16:23634873 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395129930 |
rs_766583287 |
2 SubmittersRCV000774306 |
|
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)
|
SNV Germline |
Chr16:23635010 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395130912 |
rs_1567220802 |
5 SubmittersRCV000820180RCV000773666RCV001030234 |
|
NM_024675.4(PALB2):c.1430C>A (p.Thr477Asn)
|
SNV Germline |
Chr16:23635116 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395131289 |
rs_1567221020 |
3 SubmittersRCV000771646RCV000817099 |
|
NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly)
|
SNV Germline |
Chr16:23635170 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA279498431 |
rs_1031787378 |
4 SubmittersRCV000776558RCV001030219 |
|
NM_024675.4(PALB2):c.352A>G (p.Ile118Val)
|
SNV Germline |
Chr16:23636194 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395137667 |
rs_1567223015 |
3 SubmittersRCV000772634RCV001064113 |
|
NM_024675.4(PALB2):c.341G>A (p.Gly114Glu)
|
SNV Germline |
Chr16:23636205 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395137738 |
rs_1567223045 |
3 SubmittersRCV000774983RCV003607351 |
|
NM_024675.4(PALB2):c.289T>C (p.Ser97Pro)
|
SNV Germline |
Chr16:23636257 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395138822 |
rs_1456296764 |
4 SubmittersRCV000775252RCV001344073RCV003166052 |
|
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)
|
SNV Germline |
Chr16:23638105 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395139806 |
rs_1248579792 |
6 SubmittersRCV000772890RCV001030115RCV003155956 |
|
NM_024675.4(PALB2):c.22C>A (p.Pro8Thr)
|
SNV Germline |
Chr16:23641136 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA395141153 |
rs_876660586 |
4 SubmittersRCV000773884RCV001209051RCV005367544 |
|
NM_024675.4(PALB2):c.2515-14T>A
|
SNV Germline |
Chr16:23629289 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963547 |
rs_752108348 |
3 SubmittersRCV000774629RCV002061094 |
|
NM_024675.4(PALB2):c.1685-1G>A
|
SNV Germline |
Chr16:23630470 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395128493 |
rs_1057520645 |
3 SubmittersRCV000773053RCV001064056 |
|
NM_024675.4(PALB2):c.3201+4A>G
|
SNV Germline |
Chr16:23614000 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA621354618 |
rs_1226634357 |
3 SubmittersRCV000774968RCV001304942 |
|
NM_024675.4(PALB2):c.2587-9T>C
|
SNV Germline |
Chr16:23626406 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA494161343 |
rs_1567215613 |
4 SubmittersRCV000777528RCV001050389RCV003478478 |
|
NM_024675.4(PALB2):c.1685-10T>C
|
SNV Germline |
Chr16:23630479 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA913188779 |
rs_1567219034 |
4 SubmittersRCV000774865RCV001491198RCV005231318 |
|
NM_024675.4(PALB2):c.3201+5G>T
|
SNV Germline |
Chr16:23613999 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA915949160 |
rs_1597073208 |
1 SubmittersRCV000845286 |
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
SNV Germline |
Chr16:23624084 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395145235 |
rs_1567214493 |
4 SubmittersRCV000780562RCV002440616 |
|
NM_024675.4(PALB2):c.2616G>T (p.Val872=)
|
SNV Germline |
Chr16:23626368 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494161299 |
rs_1567215519 |
6 SubmittersRCV000780565RCV000878247RCV002440617RCV001078566 |
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
SNV Germline |
Chr16:23630142 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Malignant tumor of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA7963637 |
rs_755263466 |
7 SubmittersRCV000780570RCV001355597RCV002422668RCV003155957 |
|
NM_024675.4(PALB2):c.1121T>C (p.Ile374Thr)
|
SNV Germline |
Chr16:23635425 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395133702 |
rs_1567221558 |
4 SubmittersRCV000781685RCV000794017RCV001009887 |
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
SNV Germline |
Chr16:23635785 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Uterine corpus cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA395136152 |
rs_864622695 |
4 SubmittersRCV000780563RCV001026625RCV003128160 |
|
NC_000016.10:g.23626399T>C
|
SNV Germline |
Chr16:23626399 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395122290 |
rs_1060502787 |
2 SubmittersRCV002026378 |
|
NM_024675.4(PALB2):c.2514+2T>C
|
SNV Germline |
Chr16:23629638 |
Pathogenic |
Condition: not provided |
No Assertion Criteria Provided |
CA395123908 |
rs_1343145658 |
2 SubmittersRCV000786800 |
|
NM_024675.4(PALB2):c.2768T>G (p.Val923Gly)
|
SNV Germline |
Chr16:23624075 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395145174 |
rs_1597082876 |
2 SubmittersRCV000993768 |
|
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)
|
SNV Germline |
Chr16:23603543 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395137993 |
rs_1597061983 |
3 SubmittersRCV000811935RCV004028753 |
|
NM_024675.4(PALB2):c.3277A>G (p.Ile1093Val)
|
SNV Germline |
Chr16:23607937 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395139636 |
rs_1597066812 |
3 SubmittersRCV000792136RCV004027409 |
|
NM_024675.4(PALB2):c.2942G>A (p.Ser981Asn)
|
SNV Germline |
Chr16:23623023 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395144102 |
rs_1597081224 |
2 SubmittersRCV000805772RCV005401618 |
|
NM_024675.4(PALB2):c.2773G>A (p.Val925Met)
|
SNV Germline |
Chr16:23624070 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395145141 |
rs_180177125 |
2 SubmittersRCV000807391RCV004028613 |
|
NM_024675.4(PALB2):c.2749G>A (p.Val917Ile)
|
SNV Germline |
Chr16:23624094 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome PALB2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395145267 |
rs_753767237 |
4 SubmittersRCV000815988RCV001016480RCV004545803RCV005251230 |
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
SNV Germline |
Chr16:23629224 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA7963540 |
rs_770996884 |
6 SubmittersRCV000816115RCV001015972 |
|
NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter)
|
SNV Germline |
Chr16:23629732 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395124318 |
rs_1064795507 |
1 SubmittersRCV000804000 |
|
NM_024675.4(PALB2):c.2329G>T (p.Asp777Tyr)
|
SNV Germline |
Chr16:23629825 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395125061 |
rs_148026749 |
2 SubmittersRCV000811967RCV001015206 |
|
NM_024675.4(PALB2):c.2218C>G (p.Gln740Glu)
|
SNV Germline |
Chr16:23629936 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395125557 |
rs_1555460445 |
3 SubmittersRCV000813235RCV001805889 |
|
NM_024675.4(PALB2):c.1781G>A (p.Arg594Lys)
|
SNV Germline |
Chr16:23630373 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395128146 |
rs_1597091217 |
3 SubmittersRCV000794250RCV001524353 |
|
NM_024675.4(PALB2):c.1779T>C (p.His593=)
|
SNV Germline |
Chr16:23630375 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA494461386 |
rs_1475548158 |
3 SubmittersRCV000808278RCV001013149 |
|
NM_024675.4(PALB2):c.1647C>G (p.His549Gln)
|
SNV Germline |
Chr16:23634899 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395130140 |
rs_747842085 |
2 SubmittersRCV000812545 |
|
NM_024675.4(PALB2):c.1522C>T (p.Pro508Ser)
|
SNV Germline |
Chr16:23635024 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395130967 |
rs_1597095773 |
2 SubmittersRCV000808247RCV001012001 |
|
NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro)
|
SNV Germline |
Chr16:23635114 |
Conflicting classifications of pathogenicity |
Familial cancer of breast not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395131285 |
rs_1597096071 |
3 SubmittersRCV000796364RCV002249510RCV002388440 |
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
SNV Germline |
Chr16:23635417 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA279498785 |
rs_929474806 |
5 SubmittersRCV002325498RCV000792959 |
|
NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter)
|
SNV Germline |
Chr16:23635536 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395134478 |
rs_45494092 |
2 SubmittersRCV000794532RCV004027491 |
|
NM_024675.4(PALB2):c.512T>A (p.Leu171Ter)
|
SNV Germline |
Chr16:23636034 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395137012 |
rs_876658979 |
2 SubmittersRCV000798117RCV004944161 |
|
NM_024675.4(PALB2):c.254A>G (p.Lys85Arg)
|
SNV Germline |
Chr16:23636292 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395138897 |
rs_1597099769 |
3 SubmittersRCV001030139RCV004944140RCV000791662 |
|
NM_024675.4(PALB2):c.212-2A>C
|
SNV Germline |
Chr16:23636336 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395138999 |
rs_730881879 |
6 SubmittersRCV000793896RCV001268209RCV002422689 |
|
NM_024675.4(PALB2):c.3113+5G>A
|
SNV Germline |
Chr16:23621357 |
Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA915949162 |
rs_876659463 |
3 SubmittersRCV000821488RCV002319908RCV005231391 |
|
NM_024675.4(PALB2):c.211+1G>T
|
SNV Germline |
Chr16:23637849 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395139004 |
rs_1555462026 |
8 SubmittersRCV000806217RCV001291546RCV004944181RCV005092410 |
|
NM_024675.4(PALB2):c.-1G>C
|
SNV Germline |
Chr16:23641158 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA915949148 |
rs_1341292125 |
3 SubmittersRCV000827093RCV004029200RCV005432454 |
|
NM_024675.4(PALB2):c.2202T>C (p.Thr734=)
|
SNV Germline |
Chr16:23629952 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA494461110 |
rs_1278216949 |
4 SubmittersRCV001499662RCV003478554RCV002427183 |
|
NM_024675.4(PALB2):c.1621A>C (p.Arg541=)
|
SNV Germline |
Chr16:23634925 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA494461352 |
rs_1597095457 |
5 SubmittersRCV001407327RCV001805944RCV000966551 |
|
NM_024675.4(PALB2):c.1919C>T (p.Ser640Leu)
|
SNV Germline |
Chr16:23630235 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395127513 |
rs_760094988 |
4 SubmittersRCV000985888RCV003473528RCV004030102 |
|
NM_024675.4(PALB2):c.1566A>G (p.Pro522=)
|
SNV Germline |
Chr16:23634980 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494461275 |
rs_1597095620 |
5 SubmittersRCV000985886RCV001186186RCV001495441 |
|
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)
|
SNV Germline |
Chr16:23630237 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395127520 |
rs_1597090787 |
2 SubmittersRCV000989564 |
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
SNV Germline |
Chr16:23603551 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395138028 |
rs_1597062038 |
7 SubmittersRCV001020375RCV001860983RCV003226417 |
|
NM_024675.4(PALB2):c.3460G>A (p.Val1154Ile)
|
SNV Germline |
Chr16:23603560 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395138067 |
rs_1597062059 |
2 SubmittersRCV001020361RCV005093195 |
|
NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val)
|
SNV Germline |
Chr16:23603605 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial ovarian cancer Familial cancer of breast Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA395138220 |
rs_1249960937 |
6 SubmittersRCV001020240RCV001356031RCV001361922RCV004588497RCV004702583 |
|
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter)
|
SNV Germline |
Chr16:23603625 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395138260 |
rs_1597062296 |
3 SubmittersRCV001020185RCV003455110 |
|
NM_024675.4(PALB2):c.2824A>T (p.Arg942Ter)
|
SNV Germline |
Chr16:23624019 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395144821 |
rs_757055720 |
1 SubmittersRCV001016698 |
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
SNV Germline |
Chr16:23626248 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395121841 |
rs_1555459925 |
5 SubmittersRCV001016442RCV001234330RCV005232052 |
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
SNV Germline |
Chr16:23629765 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395124573 |
rs_1060502768 |
5 SubmittersRCV001015370RCV002549416 |
|
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter)
|
SNV Germline |
Chr16:23630031 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395125753 |
rs_1597090059 |
2 SubmittersRCV001014530RCV003455085 |
|
NM_024675.4(PALB2):c.2099C>G (p.Ser700Ter)
|
SNV Germline |
Chr16:23630055 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395125797 |
rs_1597090146 |
1 SubmittersRCV001014427 |
|
NM_024675.4(PALB2):c.2078A>T (p.His693Leu)
|
SNV Germline |
Chr16:23630076 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395126578 |
rs_587780208 |
3 SubmittersRCV001014348RCV001047310RCV003478620 |
|
NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter)
|
SNV Germline |
Chr16:23630239 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395127528 |
rs_1555460592 |
2 SubmittersRCV001013686RCV003455079 |
|
NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter)
|
SNV Germline |
Chr16:23630272 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395127646 |
rs_1597090894 |
2 SubmittersRCV001013510RCV001380164 |
|
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)
|
SNV Germline |
Chr16:23634893 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395130088 |
rs_118203997 |
4 SubmittersRCV001012602RCV001284026RCV001860714 |
|
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter)
|
SNV Germline |
Chr16:23634903 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395130162 |
rs_1241049372 |
3 SubmittersRCV001012547RCV001047370 |
|
NM_024675.4(PALB2):c.1622G>A (p.Arg541Lys)
|
SNV Germline |
Chr16:23634924 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395130342 |
rs_1597095450 |
3 SubmittersRCV001012445RCV001358872 |
|
NM_024675.4(PALB2):c.1586C>T (p.Pro529Leu)
|
SNV Germline |
Chr16:23634960 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395130604 |
rs_1597095559 |
2 SubmittersRCV001012296RCV001323085 |
|
NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter)
|
SNV Germline |
Chr16:23635095 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395131225 |
rs_786203714 |
2 SubmittersRCV001011656RCV001030651 |
|
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter)
|
SNV Germline |
Chr16:23635162 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Gastric cancer Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395131383 |
rs_1597096243 |
4 SubmittersRCV001030652RCV001011273RCV003160174RCV001030221 |
|
NM_024675.4(PALB2):c.1163C>T (p.Pro388Leu)
|
SNV Germline |
Chr16:23635383 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395133468 |
rs_1597096898 |
2 SubmittersRCV001010064RCV001232223 |
|
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter)
|
SNV Germline |
Chr16:23635429 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395133728 |
rs_1597097072 |
3 SubmittersRCV001017382RCV001383301 |
|
NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter)
|
SNV Germline |
Chr16:23635536 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA16622082 |
rs_45494092 |
4 SubmittersRCV001016993RCV001057150RCV004689957 |
|
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)
|
SNV Germline |
Chr16:23635713 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N |
Criteria Provided Conflicting Classifications |
CA7963755 |
rs_200843485 |
3 SubmittersRCV001017584RCV005004485 |
|
NM_024675.4(PALB2):c.809G>A (p.Ser270Asn)
|
SNV Germline |
Chr16:23635737 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395135998 |
rs_1597098223 |
2 SubmittersRCV001027172RCV001045831 |
|
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter)
|
SNV Germline |
Chr16:23635834 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395136336 |
rs_779278389 |
3 SubmittersRCV001026070RCV001242112 |
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
SNV Germline |
Chr16:23636158 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395137451 |
rs_1555461809 |
5 SubmittersRCV001021365RCV001030148RCV001119842RCV001861018 |
|
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter)
|
SNV Germline |
Chr16:23636203 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395137728 |
rs_1597099523 |
3 SubmittersRCV001020314RCV001070132 |
|
NM_024675.4(PALB2):c.34G>C (p.Glu12Gln)
|
SNV Germline |
Chr16:23641124 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963887 |
rs_765520187 |
2 SubmittersRCV001020465RCV002551827 |
|
NM_024675.4(PALB2):c.3351-1G>C
|
SNV Germline |
Chr16:23603670 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395138433 |
rs_1597062406 |
2 SubmittersRCV001020063RCV003455108 |
|
NM_024675.4(PALB2):c.3202-4T>C
|
SNV Germline |
Chr16:23608016 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA915949159 |
rs_1597067067 |
4 SubmittersRCV001019202RCV001284320RCV001411007 |
|
NM_024675.4(PALB2):c.3113+1G>A
|
SNV Germline |
Chr16:23621361 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395142752 |
rs_1597079557 |
3 SubmittersRCV001018702RCV002550843 |
|
NM_024675.4(PALB2):c.2997-1G>A
|
SNV Germline |
Chr16:23621479 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963447 |
rs_754465466 |
4 SubmittersRCV001017865RCV003455099 |
|
NM_024675.4(PALB2):c.2834+2T>C
|
SNV Germline |
Chr16:23624007 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Gastric cancer Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395144743 |
rs_864622481 |
7 SubmittersRCV001016727RCV001030347RCV003160177RCV005236531RCV005401689RCV001860839 |
|
NM_024675.4(PALB2):c.212-5C>T
|
SNV Germline |
Chr16:23636339 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA915949138 |
rs_1597099922 |
2 SubmittersRCV001014540RCV005423766 |
|
NM_024675.4(PALB2):c.109-2A>C
|
SNV Germline |
Chr16:23637954 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395139505 |
rs_730881897 |
1 SubmittersRCV001017254 |
|
NM_024675.4(PALB2):c.2242A>G (p.Thr748Ala)
|
SNV Germline |
Chr16:23629912 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395125498 |
rs_1279823900 |
3 SubmittersRCV001030290RCV002427473RCV005093298 |
|
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter)
|
SNV Germline |
Chr16:23630071 |
Pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395125847 |
rs_1567218141 |
3 SubmittersRCV001030276RCV003455145 |
|
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter)
|
SNV Germline |
Chr16:23630182 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395127308 |
rs_1555460542 |
4 SubmittersRCV001030273RCV004030912 |
|
NM_024675.4(PALB2):c.1907A>G (p.Glu636Gly)
|
SNV Germline |
Chr16:23630247 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395127557 |
rs_1966863975 |
3 SubmittersRCV001030267RCV004030911RCV003607397 |
|
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter)
|
SNV Germline |
Chr16:23630317 |
Pathogenic |
Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395127879 |
rs_1966865214 |
6 SubmittersRCV001030263RCV003455144RCV004577541RCV003584801 |
|
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter)
|
SNV Germline |
Chr16:23630368 |
Pathogenic |
Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395128111 |
rs_1966866081 |
4 SubmittersRCV001030260RCV004702588 |
|
NM_024675.4(PALB2):c.1411G>C (p.Gly471Arg)
|
SNV Germline |
Chr16:23635135 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395131328 |
rs_1966970790 |
3 SubmittersRCV001030224RCV004659289RCV003607396 |
|
NM_024675.4(PALB2):c.812G>A (p.Ser271Asn)
|
SNV Germline |
Chr16:23635734 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395135989 |
rs_1167051191 |
4 SubmittersRCV001030177RCV002416312RCV003607394 |
|
NM_024675.4(PALB2):c.746C>T (p.Pro249Leu)
|
SNV Germline |
Chr16:23635800 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963764 |
rs_759810283 |
4 SubmittersRCV001030171RCV002391085 |
|
NM_024675.4(PALB2):c.538G>T (p.Glu180Ter)
|
SNV Germline |
Chr16:23636008 |
Pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395136914 |
rs_750782778 |
3 SubmittersRCV001030156RCV003607393 |
|
NM_024675.4(PALB2):c.227T>C (p.Ile76Thr)
|
SNV Germline |
Chr16:23636319 |
Conflicting classifications of pathogenicity |
Carcinoma of colon Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395138956 |
rs_1967061407 |
3 SubmittersRCV001030135RCV001862432RCV004030909 |
|
NM_024675.4(PALB2):c.3161C>T (p.Ser1054Phe)
|
SNV Germline |
Chr16:23614044 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395141281 |
rs_1227213725 |
2 SubmittersRCV001045819RCV002320261 |
|
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter)
|
SNV Germline |
Chr16:23621447 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395143098 |
rs_1966771907 |
3 SubmittersRCV001064157RCV002436654 |
|
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)
|
SNV Germline |
Chr16:23629669 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395124018 |
rs_1966855759 |
3 SubmittersRCV001048640RCV003283899 |
|
NM_024675.4(PALB2):c.1988G>A (p.Arg663His)
|
SNV Germline |
Chr16:23630166 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA395127231 |
rs_1462734899 |
3 SubmittersRCV001061994RCV002418525RCV003323791 |
|
NM_024675.4(PALB2):c.1568C>G (p.Ala523Gly)
|
SNV Germline |
Chr16:23634978 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395130717 |
rs_1966956742 |
2 SubmittersRCV001071418RCV004030790 |
|
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter)
|
SNV Germline |
Chr16:23634993 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA395130804 |
rs_1060502805 |
4 SubmittersRCV001044695RCV002400256RCV004740549 |
|
NM_024675.4(PALB2):c.1480A>G (p.Thr494Ala)
|
SNV Germline |
Chr16:23635066 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA395131134 |
rs_1555461258 |
4 SubmittersRCV001051470RCV002393258RCV004702605 |
|
NM_024675.4(PALB2):c.1315G>A (p.Gly439Arg)
|
SNV Germline |
Chr16:23635231 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963720 |
rs_764750338 |
2 SubmittersRCV001057203RCV004944821 |
|
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter)
|
SNV Germline |
Chr16:23635544 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395134596 |
rs_1967002667 |
3 SubmittersRCV001055176RCV003283917 |
|
NM_024675.4(PALB2):c.647T>C (p.Ile216Thr)
|
SNV Germline |
Chr16:23635899 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395136523 |
rs_1967031858 |
2 SubmittersRCV001039734RCV004944785 |
|
NM_024675.4(PALB2):c.568T>A (p.Ser190Thr)
|
SNV Germline |
Chr16:23635978 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395136806 |
rs_1967037502 |
2 SubmittersRCV001041617RCV002348354 |
|
NM_024675.4(PALB2):c.485G>C (p.Cys162Ser)
|
SNV Germline |
Chr16:23636061 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395137099 |
rs_1555461779 |
3 SubmittersRCV001050370RCV001191985 |
|
NM_024675.4(PALB2):c.483C>G (p.Asp161Glu)
|
SNV Germline |
Chr16:23636063 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA279499946 |
rs_371627753 |
3 SubmittersRCV001054073RCV002479328RCV002339272 |
|
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)
|
SNV Germline |
Chr16:23636148 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Chordoma |
Criteria Provided Conflicting Classifications |
CA395137415 |
rs_864622411 |
4 SubmittersRCV001038666RCV001178878RCV002267068 |
|
NM_024675.4(PALB2):c.290C>T (p.Ser97Phe)
|
SNV Germline |
Chr16:23636256 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395138819 |
rs_776902295 |
2 SubmittersRCV001048724 |
|
NM_024675.4(PALB2):c.211+2T>C
|
SNV Germline |
Chr16:23637848 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139002 |
rs_1967098495 |
1 SubmittersRCV001036628 |
|
NM_024675.4(PALB2):c.2514+1G>A
|
SNV Germline |
Chr16:23629639 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395123914 |
rs_886039729 |
4 SubmittersRCV001187628RCV001069194 |
|
NM_024675.4(PALB2):c.48+1G>T
|
SNV Germline |
Chr16:23641109 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395140996 |
rs_515726118 |
3 SubmittersRCV001091643RCV001377904 |
|
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)
|
SNV Germline |
Chr16:23603618 |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494173722 |
rs_1966403904 |
4 SubmittersRCV001121622RCV001526131RCV001201577 |
|
NM_024675.4(PALB2):c.*10A>T
|
SNV Germline |
Chr16:23603449 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA913188696 |
rs_1966394024 |
2 SubmittersRCV001180161RCV005428093 |
|
NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter)
|
SNV Germline |
Chr16:23623093 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395144382 |
rs_1567213829 |
2 SubmittersRCV001386173RCV001179792 |
|
NM_024675.4(PALB2):c.2535T>C (p.Pro845=)
|
SNV Germline |
Chr16:23629255 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA494163498 |
rs_1567216906 |
6 SubmittersRCV001181274RCV002559781RCV004596416RCV003478712 |
|
NM_024675.4(PALB2):c.2360C>G (p.Thr787Ser)
|
SNV Germline |
Chr16:23629794 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA279492250 |
rs_201042302 |
3 SubmittersRCV001180223RCV001218280 |
|
NM_024675.4(PALB2):c.2278C>A (p.Leu760Ile)
|
SNV Germline |
Chr16:23629876 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963601 |
rs_769634658 |
3 SubmittersRCV001180225RCV001244487 |
|
NM_024675.4(PALB2):c.2265C>A (p.Cys755Ter)
|
SNV Germline |
Chr16:23629889 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395125417 |
rs_1966858159 |
1 SubmittersRCV001188618 |
|
NM_024675.4(PALB2):c.1364A>T (p.Asn455Ile)
|
SNV Germline |
Chr16:23635182 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395131471 |
rs_587781824 |
2 SubmittersRCV001175887 |
|
NM_024675.4(PALB2):c.1352T>A (p.Leu451Ter)
|
SNV Germline |
Chr16:23635194 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395131526 |
rs_1966974831 |
1 SubmittersRCV001177020 |
|
NM_024675.4(PALB2):c.1253A>G (p.Asn418Ser)
|
SNV Germline |
Chr16:23635293 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395132874 |
rs_1784498384 |
3 SubmittersRCV001184627RCV001300771 |
|
NM_024675.4(PALB2):c.1181A>T (p.His394Leu)
|
SNV Germline |
Chr16:23635365 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963729 |
rs_762430363 |
4 SubmittersRCV001184922RCV001359927 |
|
NM_024675.4(PALB2):c.503C>G (p.Ser168Ter)
|
SNV Germline |
Chr16:23636043 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395137032 |
rs_515726122 |
4 SubmittersRCV001187410RCV003449610 |
|
NM_024675.4(PALB2):c.236A>G (p.Tyr79Cys)
|
SNV Germline |
Chr16:23636310 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395138939 |
rs_766710382 |
2 SubmittersRCV001191364 |
|
NM_024675.4(PALB2):c.37G>T (p.Glu13Ter)
|
SNV Germline |
Chr16:23641121 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395141056 |
rs_373287455 |
2 SubmittersRCV002555489RCV001178653 |
|
NM_024675.4(PALB2):c.2997-2A>T
|
SNV Germline |
Chr16:23621480 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395143249 |
rs_1555459421 |
1 SubmittersRCV001188593 |
|
NM_024675.4(PALB2):c.2749-15C>G
|
SNV Germline |
Chr16:23624109 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA913188718 |
rs_1567214528 |
2 SubmittersRCV001188503RCV002559151 |
|
NM_024675.4(PALB2):c.212-1G>A
|
SNV Germline |
Chr16:23636335 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395138998 |
rs_1597099910 |
4 SubmittersRCV001180262RCV001875981 |
|
NM_024675.4(PALB2):c.2997-15C>A
|
SNV Germline |
Chr16:23621493 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA1139664575 |
rs_1966773679 |
2 SubmittersRCV001192051RCV002069179 |
|
NM_024675.4(PALB2):c.3351-10A>T
|
SNV Germline |
Chr16:23603679 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA913188700 |
rs_1057517611 |
2 SubmittersRCV001189248RCV002560044 |
|
NM_024675.4(PALB2):c.2586+8G>T
|
SNV Germline |
Chr16:23629196 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA913188730 |
rs_1060504708 |
3 SubmittersRCV001176656RCV005093770 |
|
NM_024675.4(PALB2):c.2514+5A>G
|
SNV Germline |
Chr16:23629635 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA1139664588 |
rs_1966855329 |
2 SubmittersRCV001192770RCV005428132 |
|
NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu)
|
SNV Germline |
Chr16:23629771 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395124613 |
rs_1966856854 |
3 SubmittersRCV001196352RCV003293986 |
|
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)
|
SNV Germline |
Chr16:23607963 |
Likely pathogenic |
Malignant tumor of breast Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139820 |
rs_62625271 |
2 SubmittersRCV001201230RCV003485687 |
|
NM_024675.4(PALB2):c.2749-5T>C
|
SNV Germline |
Chr16:23624099 |
Conflicting classifications of pathogenicity |
not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494181324 |
rs_1966828330 |
2 SubmittersRCV001201202RCV005428134 |
|
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter)
|
SNV Germline |
Chr16:23603595 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395138193 |
rs_1555457878 |
3 SubmittersRCV001215359RCV002451471 |
|
NM_024675.4(PALB2):c.181C>T (p.Gln61Ter)
|
SNV Germline |
Chr16:23637880 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395139085 |
rs_1967100637 |
2 SubmittersRCV001202645 |
|
NM_024675.4(PALB2):c.3202-2A>G
|
SNV Germline |
Chr16:23608014 |
Pathogenic/Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395140148 |
rs_1060499827 |
2 SubmittersRCV001207886 |
|
NM_024675.4(PALB2):c.2587-8T>G
|
SNV Germline |
Chr16:23626405 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related cancer predisposition PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA1139664582 |
rs_1489345430 |
5 SubmittersRCV001212825RCV003584848RCV004783916RCV005359946RCV004740615 |
|
NM_024675.4(PALB2):c.2586+1G>T
|
SNV Germline |
Chr16:23629203 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395123602 |
rs_1375713365 |
1 SubmittersRCV001221542 |
|
NM_024675.4(PALB2):c.3307G>T (p.Val1103Leu)
|
SNV Germline |
Chr16:23607907 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395139465 |
rs_201657283 |
2 SubmittersRCV001228456RCV005384993 |
|
NM_024675.4(PALB2):c.1769C>T (p.Ala590Val)
|
SNV Germline |
Chr16:23630385 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395128187 |
rs_1966866430 |
2 SubmittersRCV001234776RCV004659430 |
|
NM_024675.4(PALB2):c.1497G>T (p.Leu499Phe)
|
SNV Germline |
Chr16:23635049 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395131062 |
rs_748315431 |
2 SubmittersRCV001233619RCV002393582 |
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
SNV Germline |
Chr16:23635319 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395133079 |
rs_1555461386 |
5 SubmittersRCV001229056RCV001526202 |
|
NM_024675.4(PALB2):c.1115G>A (p.Ser372Asn)
|
SNV Germline |
Chr16:23635431 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395133748 |
rs_786204243 |
2 SubmittersRCV003365269RCV001227673 |
|
NM_024675.4(PALB2):c.1411G>A (p.Gly471Arg)
|
SNV Germline |
Chr16:23635135 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395131327 |
rs_1966970790 |
2 SubmittersRCV001244884RCV004944949 |
|
NM_024675.4(PALB2):c.577A>G (p.Thr193Ala)
|
SNV Germline |
Chr16:23635969 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA395136777 |
rs_1967037000 |
3 SubmittersRCV001244167RCV002357041RCV003493830 |
|
NM_024675.4(PALB2):c.2749-1G>A
|
SNV Germline |
Chr16:23624095 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395145276 |
rs_1060502804 |
1 SubmittersRCV001238219 |
|
NM_024675.4(PALB2):c.2996+2T>C
|
SNV Germline |
Chr16:23622967 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395143815 |
rs_1966797789 |
4 SubmittersRCV001269178RCV001377139RCV003478760RCV005403011 |
|
NM_024675.4(PALB2):c.2878C>T (p.Leu960=)
|
SNV Germline |
Chr16:23623087 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494180493 |
rs_1966803657 |
2 SubmittersRCV001284199RCV002069504 |
|
NM_024675.4(PALB2):c.2136G>T (p.Ala712=)
|
SNV Germline |
Chr16:23630018 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494461158 |
rs_905951607 |
3 SubmittersRCV001284031RCV003584878RCV005423955 |
|
NM_024675.4(PALB2):c.108+2T>C
|
SNV Germline |
Chr16:23638068 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139559 |
rs_2142459705 |
1 SubmittersRCV001523835 |
|
NM_024675.4(PALB2):c.1012C>T (p.Pro338Ser)
|
SNV Germline |
Chr16:23635534 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395134436 |
rs_560853558 |
2 SubmittersRCV002350539RCV001300197 |
|
NM_024675.4(PALB2):c.1556C>A (p.Ala519Asp)
|
SNV Germline |
Chr16:23634990 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395130790 |
rs_1340452845 |
2 SubmittersRCV001317568RCV002402884 |
|
NM_024675.4(PALB2):c.2707G>A (p.Ala903Thr)
|
SNV Germline |
Chr16:23626277 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395121924 |
rs_1324636666 |
2 SubmittersRCV001340061RCV002438773 |
|
NM_024675.4(PALB2):c.1745C>T (p.Ser582Phe)
|
SNV Germline |
Chr16:23630409 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA279493666 |
rs_865777690 |
2 SubmittersRCV001350098RCV004651609 |
|
NM_024675.4(PALB2):c.1685-2A>C
|
SNV Germline |
Chr16:23630471 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395128498 |
rs_754660432 |
2 SubmittersRCV001346019RCV002412087 |
|
NM_024675.4(PALB2):c.1307A>G (p.Lys436Arg)
|
SNV Germline |
Chr16:23635239 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395132422 |
rs_1966977995 |
2 SubmittersRCV001342671RCV005385046 |
|
NM_024675.4(PALB2):c.1196C>T (p.Pro399Leu)
|
SNV Germline |
Chr16:23635350 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395133260 |
rs_776115183 |
2 SubmittersRCV001352366RCV003284250 |
|
NM_024675.4(PALB2):c.923C>T (p.Ala308Val)
|
SNV Germline |
Chr16:23635623 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395135308 |
rs_1967009067 |
2 SubmittersRCV001347591RCV004651601 |
|
NM_024675.4(PALB2):c.592C>T (p.His198Tyr)
|
SNV Germline |
Chr16:23635954 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395136723 |
rs_1967036024 |
2 SubmittersRCV001338145RCV002357177 |
|
NM_024675.4(PALB2):c.553A>G (p.Lys185Glu)
|
SNV Germline |
Chr16:23635993 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395136852 |
rs_1967038738 |
2 SubmittersRCV001342754RCV004945035 |
|
NM_024675.4(PALB2):c.385C>T (p.Pro129Ser)
|
SNV Germline |
Chr16:23636161 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA395137461 |
rs_1174443228 |
3 SubmittersRCV001351434RCV004036654RCV005361554 |
|
NM_024675.4(PALB2):c.3351G>A (p.Arg1117=)
|
SNV Germline |
Chr16:23603669 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA494173844 |
rs_1966406887 |
2 SubmittersRCV001362324RCV004036835 |
|
NM_024675.4(PALB2):c.2348C>T (p.Ala783Val)
|
SNV Germline |
Chr16:23629806 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395124890 |
rs_1473991269 |
2 SubmittersRCV001373883RCV004037588 |
|
NM_024675.4(PALB2):c.557A>G (p.Asn186Ser)
|
SNV Germline |
Chr16:23635989 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395136839 |
rs_587782164 |
2 SubmittersRCV001371738RCV004037514 |
|
NM_024675.4(PALB2):c.2749-2A>G
|
SNV Germline |
Chr16:23624096 |
Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395145280 |
rs_1555459747 |
2 SubmittersRCV001379740RCV002438885 |
|
NM_024675.4(PALB2):c.3351-1G>A
|
SNV Germline |
Chr16:23603670 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Multiple Submitters No Conflicts |
CA395138431 |
rs_1597062406 |
2 SubmittersRCV001385043RCV005014535 |
|
NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)
|
SNV Germline |
Chr16:23621417 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395143007 |
rs_2142327117 |
3 SubmittersRCV001380135RCV002447506 |
|
NM_024675.4(PALB2):c.2631G>A (p.Trp877Ter)
|
SNV Germline |
Chr16:23626353 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395122169 |
rs_2142355636 |
1 SubmittersRCV001387638 |
|
NM_024675.4(PALB2):c.2041A>T (p.Lys681Ter)
|
SNV Germline |
Chr16:23630113 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395126895 |
rs_2142382651 |
1 SubmittersRCV001388172 |
|
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)
|
SNV Germline |
Chr16:23635666 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395135745 |
rs_753676934 |
3 SubmittersRCV001388498RCV002377576 |
|
NM_024675.4(PALB2):c.691A>T (p.Lys231Ter)
|
SNV Germline |
Chr16:23635855 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395136399 |
rs_2142437289 |
1 SubmittersRCV001388611 |
|
NM_024675.4(PALB2):c.2733C>T (p.Thr911=)
|
SNV Germline |
Chr16:23626251 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA494161170 |
rs_1555459927 |
4 SubmittersRCV001464417RCV003365410RCV005408916 |
|
NM_024675.4(PALB2):c.2806T>C (p.Leu936=)
|
SNV Germline |
Chr16:23624037 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA494181112 |
rs_2142343280 |
4 SubmittersRCV001492152RCV003225187RCV005453304 |
|
NM_024675.4(PALB2):c.2595A>G (p.Ser865=)
|
SNV Germline |
Chr16:23626389 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494161328 |
rs_1597085400 |
3 SubmittersRCV001496554 |
|
NM_024675.4(PALB2):c.567A>G (p.Arg189=)
|
SNV Germline |
Chr16:23635979 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA494461778 |
rs_1597098858 |
2 SubmittersRCV001493501RCV003584967 |
|
NM_024675.4(PALB2):c.349C>T (p.Pro117Ser)
|
SNV Germline |
Chr16:23636197 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395137693 |
rs_1413238389 |
3 SubmittersRCV001759141RCV001885094RCV004945712 |
|
NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter)
|
SNV Germline |
Chr16:23629879 |
Pathogenic |
Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395125377 |
rs_515726083 |
4 SubmittersRCV003237611RCV003451919RCV005416128RCV004040750 |
|
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)
|
SNV Germline |
Chr16:23635358 |
Pathogenic |
Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395133305 |
rs_587780817 |
3 SubmittersRCV001784795RCV003316849 |
|
NM_024675.4(PALB2):c.3114-1G>C
|
SNV Germline |
Chr16:23614092 |
Likely pathogenic |
Breast and/or ovarian cancer |
Criteria Provided Single Submitter |
CA395141522 |
rs_886039619 |
1 SubmittersRCV001799366 |
|
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter)
|
SNV Germline |
Chr16:23630355 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395128055 |
rs_1966865838 |
3 SubmittersRCV001805610RCV001869552 |
|
NM_024675.4(PALB2):c.652G>T (p.Glu218Ter)
|
SNV Germline |
Chr16:23635894 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395136492 |
rs_2142438340 |
2 SubmittersRCV001872563 |
|
NM_024675.4(PALB2):c.1352T>G (p.Leu451Ter)
|
SNV Germline |
Chr16:23635194 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395131522 |
rs_1966974831 |
1 SubmittersRCV001941648 |
|
NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter)
|
SNV Germline |
Chr16:23629771 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395124615 |
rs_1966856854 |
2 SubmittersRCV001960567RCV004044362 |
|
NM_024675.4(PALB2):c.1187G>A (p.Cys396Tyr)
|
SNV Germline |
Chr16:23635359 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395133312 |
rs_2142423374 |
2 SubmittersRCV002015186RCV005455486 |
|
NM_024675.4(PALB2):c.1383T>G (p.Ser461Arg)
|
SNV Germline |
Chr16:23635163 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395131385 |
rs_768482110 |
2 SubmittersRCV001889281RCV002386668 |
|
NM_024675.4(PALB2):c.3101A>G (p.Asn1034Ser)
|
SNV Germline |
Chr16:23621374 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395142818 |
rs_2142326183 |
3 SubmittersRCV002047098RCV002324229 |
|
NM_024675.4(PALB2):c.49-1123C>G
|
SNV Germline |
Chr16:23639252 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA2573152327 |
rs_2142467185 |
2 SubmittersRCV001995273RCV005455469 |
|
NM_024675.4(PALB2):c.758T>G (p.Leu253Arg)
|
SNV Germline |
Chr16:23635788 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395136164 |
rs_2142435363 |
2 SubmittersRCV001944518RCV004651758 |
|
NM_024675.4(PALB2):c.787G>T (p.Glu263Ter)
|
SNV Germline |
Chr16:23635759 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395136048 |
rs_2142434483 |
2 SubmittersRCV001896468RCV005382241 |
|
NM_024675.4(PALB2):c.209C>G (p.Ser70Ter)
|
SNV Germline |
Chr16:23637852 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395139011 |
rs_763745734 |
2 SubmittersRCV002042347 |
|
NM_024675.4(PALB2):c.84C>A (p.Tyr28Ter)
|
SNV Germline |
Chr16:23638094 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139725 |
rs_761533286 |
1 SubmittersRCV002044551 |
|
NM_024675.4(PALB2):c.2146A>G (p.Asn716Asp)
|
SNV Germline |
Chr16:23630008 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395125704 |
rs_2142379886 |
2 SubmittersRCV001919455RCV004656741 |
|
NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter)
|
SNV Germline |
Chr16:23635525 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395134370 |
rs_2142428256 |
2 SubmittersRCV001954902RCV002407093 |
|
NM_024675.4(PALB2):c.1967C>T (p.Pro656Leu)
|
SNV Germline |
Chr16:23630187 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA279493140 |
rs_370360082 |
2 SubmittersRCV001895058RCV004945759 |
|
NM_024675.4(PALB2):c.665T>A (p.Leu222Ter)
|
SNV Germline |
Chr16:23635881 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395136454 |
rs_2142437926 |
1 SubmittersRCV001946504 |
|
NM_024675.4(PALB2):c.84C>G (p.Tyr28Ter)
|
SNV Germline |
Chr16:23638094 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139726 |
rs_761533286 |
1 SubmittersRCV001941952 |
|
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
SNV Germline |
Chr16:23614025 |
Pathogenic/Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395141184 |
rs_2142298948 |
3 SubmittersRCV001941626 |
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
SNV Germline |
Chr16:23630350 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395128029 |
rs_876660475 |
4 SubmittersRCV001970218RCV002407185 |
|
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)
|
SNV Germline |
Chr16:23629804 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395124880 |
rs_1833331932 |
4 SubmittersRCV001970020RCV003130638RCV004044375 |
|
NM_024675.4(PALB2):c.1675C>G (p.Gln559Glu)
|
SNV Germline |
Chr16:23634871 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395129922 |
rs_1555461154 |
2 SubmittersRCV001885824RCV004656699 |
|
NM_024675.4(PALB2):c.433A>G (p.Ser145Gly)
|
SNV Germline |
Chr16:23636113 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395137290 |
rs_2142443524 |
2 SubmittersRCV002030553RCV002331572 |
|
NM_024675.4(PALB2):c.821C>T (p.Thr274Ile)
|
SNV Germline |
Chr16:23635725 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA279499394 |
rs_867994747 |
2 SubmittersRCV001931483RCV004945812 |
|
NM_024675.4(PALB2):c.30C>G (p.Ser10Arg)
|
SNV Germline |
Chr16:23641128 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA7963889 |
rs_758500749 |
2 SubmittersRCV002019440RCV003355751 |
|
NM_024675.4(PALB2):c.535C>T (p.Gln179Ter)
|
SNV Germline |
Chr16:23636011 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395136927 |
rs_730881903 |
4 SubmittersRCV001963210RCV004945838 |
|
NM_024675.4(PALB2):c.2014G>T (p.Glu672Ter)
|
SNV Germline |
Chr16:23630140 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395127066 |
rs_45532440 |
1 SubmittersRCV001992625 |
|
NM_024675.4(PALB2):c.3456A>G (p.Pro1152=)
|
SNV Germline |
Chr16:23603564 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 |
Criteria Provided Conflicting Classifications |
CA494173610 |
rs_2142253411 |
3 SubmittersRCV002164567RCV002454557RCV005397333 |
|
NM_024675.4(PALB2):c.477G>A (p.Glu159=)
|
SNV Germline |
Chr16:23636069 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA494461950 |
rs_1163253431 |
6 SubmittersRCV002159422RCV002479850RCV003585196RCV005361938 |
|
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)
|
SNV Germline |
Chr16:23638120 |
Pathogenic/Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395139930 |
rs_2142461082 |
2 SubmittersRCV002223100 |
|
NM_024675.4(PALB2):c.2586+30G>A
|
SNV Germline |
Chr16:23629174 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA7963533 |
rs_769118926 |
2 SubmittersRCV002226282RCV004596528 |
|
NM_024675.4(PALB2):c.3351-7C>T
|
SNV Germline |
Chr16:23603676 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA1139532234 |
rs_2142255767 |
2 SubmittersRCV002272685 |
|
NM_024675.4(PALB2):c.758T>C (p.Leu253Pro)
|
SNV Germline |
Chr16:23635788 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395136166 |
rs_2142435363 |
2 SubmittersRCV002288318RCV002391399 |
|
NM_024675.4(PALB2):c.47A>C (p.Lys16Thr)
|
SNV Germline |
Chr16:23641111 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Single Submitter |
CA395141005 |
rs_1064795514 |
2 SubmittersRCV003156021RCV004697206 |
|
NM_024675.4(PALB2):c.454A>T (p.Lys152Ter)
|
SNV Germline |
Chr16:23636092 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Single Submitter |
CA395137206 |
rs_2506511810 |
2 SubmittersRCV003156022RCV003454093 |
|
NM_024675.4(PALB2):c.3351-2A>T
|
SNV Germline |
Chr16:23603671 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA395138435 |
rs_1060502764 |
3 SubmittersRCV002325724RCV003156024RCV004809809 |
|
NM_024675.4(PALB2):c.3380G>A (p.Cys1127Tyr)
|
SNV Germline |
Chr16:23603640 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA7963345 |
rs_759944815 |
2 SubmittersRCV002451830RCV003607453 |
|
NM_024675.4(PALB2):c.3350+2C>T
|
SNV Germline |
Chr16:23607862 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395139174 |
rs_1555458171 |
2 SubmittersRCV002320978RCV004047797 |
|
NM_024675.4(PALB2):c.1157C>T (p.Thr386Ile)
|
SNV Germline |
Chr16:23635389 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395133493 |
rs_876660840 |
2 SubmittersRCV003500713RCV002355558 |
|
NM_024675.4(PALB2):c.1174G>T (p.Glu392Ter)
|
SNV Germline |
Chr16:23635372 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395133413 |
rs_2142423775 |
1 SubmittersRCV002333831 |
|
NM_024675.4(PALB2):c.3315G>A (p.Val1105=)
|
SNV Germline |
Chr16:23607899 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494175510 |
rs_2142271728 |
3 SubmittersRCV002454725RCV003500705 |
|
NM_024675.4(PALB2):c.3113+1G>C
|
SNV Germline |
Chr16:23621361 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395142751 |
rs_1597079557 |
2 SubmittersRCV002326111RCV003454100 |
|
NM_024675.4(PALB2):c.358A>G (p.Arg120Gly)
|
SNV Germline |
Chr16:23636188 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395137623 |
rs_2142445228 |
2 SubmittersRCV002339826RCV005096322 |
|
NM_024675.4(PALB2):c.376G>A (p.Glu126Lys)
|
SNV Germline |
Chr16:23636170 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA7963797 |
rs_577006107 |
3 SubmittersRCV002363862RCV003500711RCV003478969 |
|
NM_024675.4(PALB2):c.1273G>C (p.Val425Leu)
|
SNV Germline |
Chr16:23635273 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395132638 |
rs_576081828 |
2 SubmittersRCV002378893RCV005097317 |
|
NM_024675.4(PALB2):c.703A>G (p.Thr235Ala)
|
SNV Germline |
Chr16:23635843 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395136368 |
rs_2142436855 |
2 SubmittersRCV002364948RCV003607481 |
|
NM_024675.4(PALB2):c.1257C>A (p.Cys419Ter)
|
SNV Germline |
Chr16:23635289 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395132823 |
rs_786201086 |
1 SubmittersRCV002419503 |
|
NM_024675.4(PALB2):c.934A>T (p.Ser312Cys)
|
SNV Germline |
Chr16:23635612 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395135229 |
rs_1401541483 |
2 SubmittersRCV002371687RCV003774174 |
|
NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)
|
SNV Germline |
Chr16:23630429 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395128363 |
rs_2142390682 |
3 SubmittersRCV002399116RCV003454280 |
|
NM_024675.4(PALB2):c.1879G>C (p.Val627Leu)
|
SNV Germline |
Chr16:23630275 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395127657 |
rs_1567218614 |
2 SubmittersRCV002415264RCV003774539 |
|
NM_024675.4(PALB2):c.1894G>T (p.Glu632Ter)
|
SNV Germline |
Chr16:23630260 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395127604 |
rs_2142386640 |
1 SubmittersRCV002408081 |
|
NM_024675.4(PALB2):c.1603A>G (p.Ser535Gly)
|
SNV Germline |
Chr16:23634943 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA395130513 |
rs_2142411421 |
3 SubmittersRCV002398735RCV003321942 |
|
NM_024675.4(PALB2):c.1969G>T (p.Glu657Ter)
|
SNV Germline |
Chr16:23630185 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395127323 |
rs_2142384677 |
1 SubmittersRCV002423443 |
|
NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)
|
SNV Germline |
Chr16:23626349 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395122158 |
rs_1555459994 |
2 SubmittersRCV002428590RCV003336742 |
|
NM_024675.4(PALB2):c.1A>C (p.Met1Leu)
|
SNV Germline |
Chr16:23641157 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395141291 |
rs_879254144 |
1 SubmittersRCV002417103 |
|
NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)
|
SNV Germline |
Chr16:23629857 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395125283 |
rs_1555460410 |
2 SubmittersRCV002446269RCV003098785 |
|
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
|
SNV Germline |
Chr16:23641156 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395141286 |
rs_756519825 |
4 SubmittersRCV002435654RCV003102964RCV004999767 |
|
NM_024675.4(PALB2):c.2T>A (p.Met1Lys)
|
SNV Germline |
Chr16:23641156 |
Pathogenic |
Gastric cancer |
No Assertion Criteria Provided |
CA395141289 |
rs_756519825 |
1 SubmittersRCV003164576 |
|
NM_024675.4(PALB2):c.2586+1G>A
|
SNV Germline |
Chr16:23629203 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA395123610 |
rs_1375713365 |
3 SubmittersRCV003064332RCV003321970 |
|
NM_024675.4(PALB2):c.3114-239A>T
|
SNV Germline |
Chr16:23614330 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA2580091263 |
rs_2506269944 |
2 SubmittersRCV003075381RCV004071807 |
|
NM_024675.4(PALB2):c.2587-15T>C
|
SNV Germline |
Chr16:23626412 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA2575946419 |
rs_2142356956 |
2 SubmittersRCV003080810 |
|
NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)
|
SNV Germline |
Chr16:23626267 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395121884 |
rs_2142353580 |
2 SubmittersRCV002611968 |
|
NM_024675.4(PALB2):c.1255T>C (p.Cys419Arg)
|
SNV Germline |
Chr16:23635291 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395132854 |
rs_2142421373 |
2 SubmittersRCV002717256RCV004067773 |
|
NM_024675.4(PALB2):c.3202-9C>A
|
SNV Germline |
Chr16:23608021 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA2213428981 |
rs_757444247 |
2 SubmittersRCV002736157RCV005251328 |
|
NM_024675.4(PALB2):c.182A>T (p.Gln61Leu)
|
SNV Germline |
Chr16:23637879 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395139076 |
rs_1354687901 |
2 SubmittersRCV002785728RCV004946046 |
|
NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)
|
SNV Germline |
Chr16:23630296 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395127751 |
rs_777940379 |
2 SubmittersRCV002807323 |
|
NM_024675.4(PALB2):c.2277A>T (p.Gln759His)
|
SNV Germline |
Chr16:23629877 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395125368 |
rs_786202524 |
2 SubmittersRCV002856618RCV005455611 |
|
NM_024675.4(PALB2):c.48+8G>C
|
SNV Germline |
Chr16:23641102 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA2580091243 |
rs_2142480527 |
2 SubmittersRCV002833664 |
|
NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)
|
SNV Germline |
Chr16:23635584 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395134962 |
rs_2142429833 |
2 SubmittersRCV002857111 |
|
NM_024675.4(PALB2):c.715A>T (p.Arg239Ter)
|
SNV Germline |
Chr16:23635831 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395136320 |
rs_1967026821 |
1 SubmittersRCV002872244 |
|
NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)
|
SNV Germline |
Chr16:23635010 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395130911 |
rs_1567220802 |
2 SubmittersRCV002898881 |
|
NM_024675.4(PALB2):c.1684+2T>A
|
SNV Germline |
Chr16:23634860 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395129858 |
rs_2142409238 |
2 SubmittersRCV002913112RCV003367903 |
|
NM_024675.4(PALB2):c.1490A>G (p.Asn497Ser)
|
SNV Germline |
Chr16:23635056 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395131096 |
rs_1966962812 |
2 SubmittersRCV002947546RCV004067106 |
|
NM_024675.4(PALB2):c.1549A>T (p.Lys517Ter)
|
SNV Germline |
Chr16:23634997 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395130831 |
rs_2506473795 |
1 SubmittersRCV002954240 |
|
NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)
|
SNV Germline |
Chr16:23629212 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395123667 |
rs_1966853670 |
2 SubmittersRCV002958045RCV003367916 |
|
NM_024675.4(PALB2):c.3303C>T (p.Leu1101=)
|
SNV Germline |
Chr16:23607911 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494175553 |
rs_2506215064 |
2 SubmittersRCV003032076 |
|
NM_024675.4(PALB2):c.2555C>T (p.Pro852Leu)
|
SNV Germline |
Chr16:23629235 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395123750 |
rs_2142368283 |
2 SubmittersRCV003023810RCV004654098 |
|
NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)
|
SNV Germline |
Chr16:23621471 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395143203 |
rs_2142328421 |
2 SubmittersRCV003047180 |
|
NM_024675.4(PALB2):c.2058G>C (p.Arg686Ser)
|
SNV Germline |
Chr16:23630096 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395126761 |
rs_771376636 |
2 SubmittersRCV003127146RCV004245979 |
|
NM_024675.4(PALB2):c.854C>A (p.Ser285Ter)
|
SNV Unknown |
Chr16:23635692 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395135850 |
rs_180177094 |
1 SubmittersRCV003140367 |
|
NM_024675.4(PALB2):c.27C>T (p.Leu9=)
|
SNV Germline |
Chr16:23641131 |
Conflicting classifications of pathogenicity |
Pancreatic cancer, susceptibility to, 3 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494168470 |
rs_749298208 |
2 SubmittersRCV003142288RCV005422268 |
|
NM_024675.4(PALB2):c.280G>T (p.Glu94Ter)
|
SNV Germline |
Chr16:23636266 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395138843 |
rs_45602040 |
3 SubmittersRCV003182763RCV003228144RCV005425115 |
|
NM_024675.4(PALB2):c.3254T>A (p.Leu1085Ter)
|
SNV Germline |
Chr16:23607960 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395139801 |
rs_780524136 |
1 SubmittersRCV003182764 |
|
NM_024675.4(PALB2):c.2514+1G>T
|
SNV Germline |
Chr16:23629639 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395123913 |
rs_886039729 |
1 SubmittersRCV003182766 |
|
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
|
SNV Germline |
Chr16:23630116 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395126914 |
rs_1223755856 |
3 SubmittersRCV003229332RCV003455782 |
|
NM_024675.4(PALB2):c.3457C>G (p.Pro1153Ala)
|
SNV Germline |
Chr16:23603563 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395138078 |
rs_1966399624 |
3 SubmittersRCV003230139RCV003607576RCV004285639 |
|
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
|
SNV Germline |
Chr16:23622970 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395143834 |
rs_1269970394 |
3 SubmittersRCV003311306RCV003455792 |
|
NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter)
|
SNV Unknown |
Chr16:23634986 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395130763 |
rs_2142412586 |
1 SubmittersRCV003316918 |
|
NM_024675.4(PALB2):c.108+2T>G
|
SNV Germline |
Chr16:23638068 |
Pathogenic/Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395139553 |
rs_2142459705 |
2 SubmittersRCV003316941 |
|
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
|
SNV Germline |
Chr16:23635672 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395135773 |
rs_1335897946 |
3 SubmittersRCV003317953RCV003455798 |
|
NM_024675.4(PALB2):c.2835-1G>T
|
SNV Germline |
Chr16:23623131 |
Likely pathogenic |
Familial cancer of breast |
No Assertion Criteria Provided |
CA395144549 |
rs_515726099 |
1 SubmittersRCV003485910 |
|
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
|
SNV Germline |
Chr16:23636173 |
Pathogenic/Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395137513 |
rs_2142444897 |
3 SubmittersRCV003485911 |
|
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
|
SNV Germline |
Chr16:23635003 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395130869 |
rs_1188755325 |
3 SubmittersRCV003326936RCV003455801RCV003585380 |
|
NM_024675.4(PALB2):c.1135A>T (p.Lys379Ter)
|
SNV Germline |
Chr16:23635411 |
Pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
CA395133619 |
rs_2142424902 |
1 SubmittersRCV003328908 |
|
NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)
|
SNV Germline |
Chr16:23635555 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395134714 |
rs_878855126 |
2 SubmittersRCV003336888 |
|
NM_024675.4(PALB2):c.191C>A (p.Ser64Ter)
|
SNV Unknown |
Chr16:23637870 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139044 |
rs_1567223942 |
1 SubmittersRCV003335750 |
|
NM_024675.4(PALB2):c.2835-2A>G
|
SNV Germline |
Chr16:23623132 |
Likely pathogenic |
Fanconi anemia complementation group N Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395144551 |
rs_886039613 |
2 SubmittersRCV003340766RCV003455803 |
|
NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)
|
SNV Germline |
Chr16:23630414 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395128296 |
rs_2142390387 |
2 SubmittersRCV003455810RCV003360869 |
|
NM_024675.4(PALB2):c.109-2A>T
|
SNV Unknown |
Chr16:23637954 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395139502 |
rs_730881897 |
2 SubmittersRCV003450443 |
|
NM_024675.4(PALB2):c.49-2A>G
|
SNV Germline |
Chr16:23638131 |
Conflicting classifications of pathogenicity |
Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395140049 |
rs_786203245 |
2 SubmittersRCV003476607 |
|
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
|
SNV Unknown |
Chr16:23636014 |
Pathogenic/Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395136941 |
rs_1597098960 |
2 SubmittersRCV003450476 |
|
NM_024675.4(PALB2):c.2834+2T>A
|
SNV Germline |
Chr16:23624007 |
Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395144747 |
rs_864622481 |
3 SubmittersRCV003450451RCV004364752 |
|
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
|
SNV Germline |
Chr16:23634936 |
Pathogenic/Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395130459 |
rs_142103232 |
3 SubmittersRCV003452234 |
|
NM_024675.4(PALB2):c.2587-1G>A
|
SNV Unknown |
Chr16:23626398 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395122286 |
rs_761214886 |
1 SubmittersRCV003450440 |
|
NM_024675.4(PALB2):c.2997-2A>G
|
SNV Unknown |
Chr16:23621480 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395143252 |
rs_1555459421 |
1 SubmittersRCV003450441 |
|
NM_024675.4(PALB2):c.2748+2T>A
|
SNV Unknown |
Chr16:23626234 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395121812 |
rs_1060499821 |
1 SubmittersRCV003450442 |
|
NM_024675.4(PALB2):c.109-1G>A
|
SNV Germline |
Chr16:23637953 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395139500 |
rs_2142458017 |
3 SubmittersRCV003450444RCV005455798 |
|
NM_024675.4(PALB2):c.3350+2C>A
|
SNV Germline |
Chr16:23607862 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395139184 |
rs_1555458171 |
2 SubmittersRCV005403315RCV003450445 |
|
NM_024675.4(PALB2):c.3114-2A>G
|
SNV Germline |
Chr16:23614093 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395141527 |
rs_2142300348 |
2 SubmittersRCV003450447 |
|
NM_024675.4(PALB2):c.3G>T (p.Met1Ile)
|
SNV Unknown |
Chr16:23641155 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395141271 |
rs_1057517585 |
1 SubmittersRCV003450448 |
|
NM_024675.4(PALB2):c.3201+1G>A
|
SNV Germline |
Chr16:23614003 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395141079 |
rs_587776423 |
3 SubmittersRCV003450450RCV004943042 |
|
NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)
|
SNV Unknown |
Chr16:23621362 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395142753 |
rs_180177132 |
1 SubmittersRCV003450453 |
|
NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter)
|
SNV Unknown |
Chr16:23634954 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA279498153 |
rs_540962715 |
1 SubmittersRCV003450461 |
|
NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter)
|
SNV Unknown |
Chr16:23630086 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395126666 |
rs_1555460505 |
1 SubmittersRCV003450464 |
|
NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
|
SNV Germline |
Chr16:23621465 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395143174 |
rs_2142328321 |
3 SubmittersRCV003585399RCV003450466 |
|
NM_024675.4(PALB2):c.412G>T (p.Glu138Ter)
|
SNV Unknown |
Chr16:23636134 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395137362 |
rs_1967048357 |
1 SubmittersRCV003450467 |
|
NM_024675.4(PALB2):c.313G>T (p.Glu105Ter)
|
SNV Unknown |
Chr16:23636233 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395138778 |
rs_1307895700 |
1 SubmittersRCV003450471 |
|
NM_024675.4(PALB2):c.55G>T (p.Glu19Ter)
|
SNV Unknown |
Chr16:23638123 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139966 |
rs_2142461160 |
1 SubmittersRCV003450472 |
|
NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter)
|
SNV Unknown |
Chr16:23629710 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395124200 |
rs_879254068 |
1 SubmittersRCV003450475 |
|
NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)
|
SNV Germline |
Chr16:23626249 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395121842 |
rs_2142353165 |
2 SubmittersRCV003450477 |
|
NM_024675.4(PALB2):c.470C>A (p.Ser157Ter)
|
SNV Unknown |
Chr16:23636076 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395137141 |
rs_749078410 |
1 SubmittersRCV003450478 |
|
NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)
|
SNV Germline |
Chr16:23635132 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395131320 |
rs_2142416694 |
2 SubmittersRCV004943043RCV003450479 |
|
NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter)
|
SNV Unknown |
Chr16:23607976 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139942 |
rs_1966511830 |
1 SubmittersRCV003450480 |
|
NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter)
|
SNV Unknown |
Chr16:23634964 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395130634 |
rs_1966955447 |
1 SubmittersRCV003450487 |
|
NM_024675.4(PALB2):c.268G>T (p.Glu90Ter)
|
SNV Germline |
Chr16:23636278 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA395138867 |
rs_2142447291 |
2 SubmittersRCV004943044RCV003450489 |
|
NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter)
|
SNV Unknown |
Chr16:23630262 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395127611 |
rs_2142386665 |
1 SubmittersRCV003450493 |
|
NM_024675.4(PALB2):c.964G>T (p.Glu322Ter)
|
SNV Unknown |
Chr16:23635582 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395134933 |
rs_1597097656 |
1 SubmittersRCV003450497 |
|
NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter)
|
SNV Unknown |
Chr16:23630206 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395127403 |
rs_1597090662 |
1 SubmittersRCV003450500 |
|
NM_024675.4(PALB2):c.33T>A (p.Cys11Ter)
|
SNV Unknown |
Chr16:23641125 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395141083 |
rs_2142481060 |
1 SubmittersRCV003450503 |
|
NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)
|
SNV Unknown |
Chr16:23603601 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Multiple Submitters No Conflicts |
CA395138212 |
rs_1060502809 |
2 SubmittersRCV003450504RCV004560172 |
|
NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter)
|
SNV Unknown |
Chr16:23614066 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395141365 |
rs_2506266710 |
1 SubmittersRCV003452231 |
|
NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter)
|
SNV Unknown |
Chr16:23629857 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395125285 |
rs_1555460410 |
1 SubmittersRCV003452239 |
|
NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter)
|
SNV Unknown |
Chr16:23626326 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395122097 |
rs_2142354911 |
1 SubmittersRCV003452246 |
|
NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter)
|
SNV Unknown |
Chr16:23614086 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395141477 |
rs_2142300225 |
1 SubmittersRCV003452255 |
|
NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter)
|
SNV Unknown |
Chr16:23635544 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395134614 |
rs_1967002667 |
1 SubmittersRCV003452262 |
|
NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter)
|
SNV Unknown |
Chr16:23607973 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395139906 |
rs_2142273676 |
1 SubmittersRCV003452276 |
|
NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter)
|
SNV Unknown |
Chr16:23626380 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395122230 |
rs_2142356386 |
1 SubmittersRCV003452279 |
|
NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter)
|
SNV Unknown |
Chr16:23635435 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395133779 |
rs_1312378621 |
1 SubmittersRCV003452282 |
|
NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter)
|
SNV Unknown |
Chr16:23629710 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395124202 |
rs_879254068 |
1 SubmittersRCV003452284 |
|
NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter)
|
SNV Germline |
Chr16:23614086 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395141471 |
rs_2142300225 |
2 SubmittersRCV003452298RCV005455800 |
|
NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter)
|
SNV Unknown |
Chr16:23629980 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395125643 |
rs_1567217931 |
1 SubmittersRCV003452315 |
|
NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter)
|
SNV Unknown |
Chr16:23603617 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395138242 |
rs_2142254584 |
1 SubmittersRCV003452326 |
|
NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter)
|
SNV Unknown |
Chr16:23626337 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395122133 |
rs_1966842668 |
1 SubmittersRCV003452331 |
|
NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter)
|
SNV Unknown |
Chr16:23630313 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395127846 |
rs_1555460628 |
1 SubmittersRCV003452370 |
|
NM_024675.4(PALB2):c.2580G>C (p.Glu860Asp)
|
SNV Germline |
Chr16:23629210 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Conflicting Classifications |
CA395123654 |
rs_1348398121 |
4 SubmittersRCV003477328RCV003585417RCV005356448 |
|
NM_024675.4(PALB2):c.62T>A (p.Leu21Ter)
|
SNV Germline |
Chr16:23638116 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Single Submitter |
CA395139893 |
rs_769240800 |
1 SubmittersRCV003484442 |
|
NM_024675.4(PALB2):c.3327T>A (p.Cys1109Ter)
|
SNV Germline |
Chr16:23607887 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA395139353 |
rs_2142271504 |
1 SubmittersRCV003484243 |
|
NM_024675.4(PALB2):c.2175A>T (p.Ser725=)
|
SNV Germline |
Chr16:23629979 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA494461128 |
rs_2142379081 |
2 SubmittersRCV003500951RCV004366462 |
|
NM_024675.4(PALB2):c.3202-13T>C
|
SNV Germline |
Chr16:23608025 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA2697555733 |
rs_2142274636 |
5 SubmittersRCV003585421RCV003596262RCV005230518RCV003500873 |
|
NM_024675.4(PALB2):c.442A>T (p.Lys148Ter)
|
SNV Germline |
Chr16:23636104 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395137253 |
rs_2142443334 |
1 SubmittersRCV003501301 |
|
NM_024675.4(PALB2):c.307G>C (p.Gly103Arg)
|
SNV Germline |
Chr16:23636239 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395138791 |
rs_2142446440 |
2 SubmittersRCV003501481RCV004943084 |
|
NM_024675.4(PALB2):c.48+4C>A
|
SNV Germline |
Chr16:23641106 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA2697555740 |
rs_876659843 |
3 SubmittersRCV003500287RCV005387207 |
|
NM_024675.4(PALB2):c.2786A>G (p.Tyr929Cys)
|
SNV Germline |
Chr16:23624057 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome PALB2-related disorder |
Criteria Provided Conflicting Classifications |
CA395145070 |
rs_1249404804 |
3 SubmittersRCV003585684RCV004723393 |
|
NM_024675.4(PALB2):c.1615G>A (p.Val539Ile)
|
SNV Germline |
Chr16:23634931 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395130420 |
rs_2142411065 |
2 SubmittersRCV003607625RCV005468001 |
|
NM_024675.4(PALB2):c.927A>G (p.Ile309Met)
|
SNV Germline |
Chr16:23635619 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA395135283 |
rs_1326253995 |
2 SubmittersRCV003607879RCV005387224 |
|
NM_024675.4(PALB2):c.2400T>A (p.Cys800Ter)
|
SNV Germline |
Chr16:23629754 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395124462 |
rs_2142373865 |
1 SubmittersRCV003607843 |
|
NM_024675.4(PALB2):c.50T>A (p.Leu17Ter)
|
SNV Germline |
Chr16:23638128 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395140025 |
rs_1567224232 |
1 SubmittersRCV003607890 |
|
NM_024675.4(PALB2):c.3252G>T (p.Ser1084=)
|
SNV Germline |
Chr16:23607962 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA494175748 |
rs_141570833 |
2 SubmittersRCV003608266RCV005403344 |
|
NM_024675.4(PALB2):c.2582T>G (p.Leu861Ter)
|
SNV Germline |
Chr16:23629208 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395123639 |
rs_2142367705 |
1 SubmittersRCV003608365 |
|
NM_024675.4(PALB2):c.2992G>T (p.Gly998Ter)
|
SNV Germline |
Chr16:23622973 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA395143840 |
rs_1039184417 |
1 SubmittersRCV003608380 |
|
NM_024675.4(PALB2):c.1224T>G (p.Tyr408Ter)
|
SNV Germline |
Chr16:23635322 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA395133110 |
rs_2142422250 |
2 SubmittersRCV004017206RCV004943298 |
|
NM_024675.4(PALB2):c.1064T>A (p.Leu355Ter)
|
SNV Germline |
Chr16:23635482 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA395134053 |
rs_1597097263 |
1 SubmittersRCV004517722 |
|
NM_024675.4(PALB2):c.1838A>T (p.Gln613Leu)
|
SNV Germline |
Chr16:23630316 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA395127862 |
rs_1966865170 |
2 SubmittersRCV004517741RCV005100631 |
|
NM_024675.4(PALB2):c.2653C>T (p.Pro885Ser)
|
SNV Germline |
Chr16:23626331 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA395122114 |
rs_878855111 |
2 SubmittersRCV004517758RCV004584242 |
|
NM_024675.4(PALB2):c.2817G>A (p.Leu939=)
|
SNV Germline |
Chr16:23624026 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA494181085 |
rs_1555459710 |
3 SubmittersRCV004517764RCV005100633 |
|
NM_024675.4(PALB2):c.2997-1G>C
|
SNV Germline |
Chr16:23621479 |
Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_754465466 |
2 SubmittersRCV004589108RCV005468117 |
|
NM_024675.4(PALB2):c.2793C>A (p.Leu931=)
|
SNV Germline |
Chr16:23624050 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
|
|
3 SubmittersRCV004650735RCV005102351 |
|
NM_024675.4(PALB2):c.1660G>T (p.Glu554Ter)
|
SNV Germline |
Chr16:23634886 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004664045 |
|
NM_024675.4(PALB2):c.3350+1G>C
|
SNV Germline |
Chr16:23607863 |
Likely pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
|
|
2 SubmittersRCV004697935RCV005249713 |
|
NM_024675.4(PALB2):c.2053A>T (p.Lys685Ter)
|
SNV Germline |
Chr16:23630101 |
Likely pathogenic |
PALB2-related disorder |
No Assertion Criteria Provided |
|
|
1 SubmittersRCV004728151 |
|
NM_024675.4(PALB2):c.2045C>A (p.Ser682Ter)
|
SNV Germline |
Chr16:23630109 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004945566 |
|
NM_024675.4(PALB2):c.283A>T (p.Lys95Ter)
|
SNV Germline |
Chr16:23636263 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004945583 |
|
NM_024675.4(PALB2):c.1873G>T (p.Glu625Ter)
|
SNV Germline |
Chr16:23630281 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004945586 |
|
NM_024675.4(PALB2):c.237T>G (p.Tyr79Ter)
|
SNV Germline |
Chr16:23636309 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004945589 |
|
NM_024675.4(PALB2):c.3114-2A>C
|
SNV Germline |
Chr16:23614093 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004945614 |
|
NM_024675.4(PALB2):c.231T>A (p.Cys77Ter)
|
SNV Germline |
Chr16:23636315 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005125127 |
|
NM_024675.4(PALB2):c.1951G>T (p.Gly651Ter)
|
SNV Germline |
Chr16:23630203 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005138426 |
|
NM_024675.4(PALB2):c.733G>T (p.Ala245Ser)
|
SNV Germline |
Chr16:23635813 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV005187562RCV005387383 |
|
NM_024675.4(PALB2):c.2515-2A>C
|
SNV Germline |
Chr16:23629277 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005203142 |
|
NM_024675.4(PALB2):c.3173C>A (p.Ser1058Ter)
|
SNV Germline |
Chr16:23614032 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005197201 |
|
NM_024675.4(PALB2):c.211+1G>C
|
SNV Unknown |
Chr16:23637849 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005246180 |
|
NM_024675.4(PALB2):c.2959C>T (p.Gln987Ter)
|
SNV Germline |
Chr16:23623006 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005251460 |
|
NM_024675.4(PALB2):c.2472T>A (p.Cys824Ter)
|
SNV Germline |
Chr16:23629682 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 5 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005365748 |
|
NM_024675.4(PALB2):c.2841G>A (p.Leu947=)
|
SNV Germline |
Chr16:23623124 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 5 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV005362308RCV005422603 |
|
NM_024675.4(PALB2):c.2518G>T (p.Glu840Ter)
|
SNV Germline |
Chr16:23629272 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005427001 |
|
NM_024675.4(PALB2):c.271G>T (p.Glu91Ter)
|
SNV Germline |
Chr16:23636275 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005451583 |
|
NM_024675.4(PALB2):c.160G>T (p.Glu54Ter)
|
SNV Germline |
Chr16:23637901 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005451594 |
|
NM_024675.4(PALB2):c.1876A>T (p.Lys626Ter)
|
SNV Germline |
Chr16:23630278 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005451598 |
|
NM_024675.4(PALB2):c.1A>T (p.Met1Leu)
|
SNV Germline |
Chr16:23641157 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005451603 |
|
NM_024675.4(PALB2):c.3532G>T (p.Gly1178Ter)
|
SNV Unknown |
Chr16:23603488 |
Pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005621820 |