An
Autosomal recessive, X-linked dominant
mode(s) within the
Bone disorders
category
Conflicting classifications of pathogenicity
7
Likely pathogenic
5
Pathogenic
19
Pathogenic/Likely pathogenic
7
Uncertain significance
15
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001408458.1(BRCA1):c.-61-9703_-61-8238del | Deletion | Chr17:43124017 - 43125482 | Uncertain significance | Intron variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter) | Single nucleotide variant | Chr13:32339088 | Pathogenic/Likely pathogenic | Nonsense | rs2137509604 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_032043.3(BRIP1):c.633del (p.Gly212fs) | Deletion | Chr17:61808752 | Pathogenic | Frameshift variant | rs779466229 | |
| NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu) | Single nucleotide variant | Chr17:61780299 | Conflicting classifications of pathogenicity | Missense variant | rs765314472 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000135.4(FANCA):c.826+2T>C | Single nucleotide variant | Chr16:89799603 | Conflicting classifications of pathogenicity | Splice donor variant | rs2143585058 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4(FANCA):c.3409-2A>C | Single nucleotide variant | Chr16:89746690 | Uncertain significance | Splice acceptor variant | rs2143107119 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4(FANCA):c.3239+2T>G | Single nucleotide variant | Chr16:89749728 | Uncertain significance | Splice donor variant | rs1567603724 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NC_000016.10:g.89839795C>G | Single nucleotide variant | Chr16:89839795 | Uncertain significance | Intron variant | rs2041486621 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4:c.710_894del | Deletion | Chr: | Likely pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4:c.1901_3240del | Deletion | Chr: | Likely pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4:c.1626_2602del | Deletion | Chr: | Pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4:c.2853_*580del | Deletion | Chr: | Pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4:c.1471_2853del | Deletion | Chr: | Pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4:c.894_2015del | Deletion | Chr: | Pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4:c.874_2982del | Deletion | Chr: | Pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4:c.1019_*580del | Deletion | Chr: | Pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4:c.284_1627del | Deletion | Chr: | Pathogenic |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
||
| NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser) | Single nucleotide variant | Chr16:89740844 | Uncertain significance | Missense variant|3 prime UTR variant|non-coding transcript variant | rs2062115558 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del) | Deletion | Chr16:89740838 - 89740840 | Uncertain significance | Inframe_deletion|3 prime UTR variant|non-coding transcript variant | rs2151716800 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) | Single nucleotide variant | Chr16:89748725 | Conflicting classifications of pathogenicity | Missense variant | rs761244757 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter) | Single nucleotide variant | Chr16:89791418 | Pathogenic | Nonsense | rs1199670660 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) | Single nucleotide variant | Chr16:89765012 | Pathogenic | Nonsense | rs1487360770 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4(FANCA):c.4185dup (p.Ile1396fs) | Duplication | Chr16:89738956 - 89738957 | Pathogenic | Frameshift variant|3 prime UTR variant|non-coding transcript variant | rs2062046121 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) | Single nucleotide variant | Chr16:89739215 | Conflicting classifications of pathogenicity | Nonsense|3 prime UTR variant|non-coding transcript variant | rs745688750 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000135.4(FANCA):c.3239+1dup | Duplication | Chr16:89749728 - 89749729 | Pathogenic | Splice donor variant | rs766989857 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000135.4(FANCA):c.964C>T (p.His322Tyr) | Single nucleotide variant | Chr16:89795948 | Conflicting classifications of pathogenicity | Missense variant | rs772768595 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) | Microsatellite | Chr16:89742803 - 89742804 | Pathogenic | Frameshift variant | rs868273545 |
.Lifecell International Pvt. Ltd |
| NM_001018113.3(FANCB):c.2165+2T>G | Single nucleotide variant | ChrX:14844501 | Uncertain significance | Splice donor variant | rs2147389062 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) | Single nucleotide variant | Chr9:95249222 | Pathogenic/Likely pathogenic | Nonsense | rs2136101386 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu) | Single nucleotide variant | Chr3:10065955 | Uncertain significance | Missense variant | rs765365413 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001018115.3(FANCD2):c.473C>G (p.Pro158Arg) | Single nucleotide variant | Chr3:10036321 | Uncertain significance | Missense variant | rs2124978557 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001018115.3(FANCD2):c.1413+2T>A | Single nucleotide variant | Chr3:10048053 | Uncertain significance | Splice donor variant | rs1459222478 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001018115.3(FANCD2):c.571-3C>G | Single nucleotide variant | Chr3:10039718 | Uncertain significance | Intron variant | rs191386799 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001018115.3(FANCD2):c.2976+5G>A | Single nucleotide variant | Chr3:10078202 | Conflicting classifications of pathogenicity | Intron variant | rs748710535 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001018115.3(FANCD2):c.206-1G>T | Single nucleotide variant | Chr3:10034468 | Likely pathogenic | Splice acceptor variant | rs2124974541 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001018115.3(FANCD2):c.4338T>G (p.Ser1446Arg) | Single nucleotide variant | Chr3:10101244 | Uncertain significance | Missense variant|intron variant | rs2125105648 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_021922.3(FANCE):c.491T>C (p.Leu164Pro) | Single nucleotide variant | Chr6:35455989 | Uncertain significance | Missense variant | rs1767316710 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_004629.2(FANCG):c.1761-2A>C | Single nucleotide variant | Chr9:35074218 | Likely pathogenic | Splice acceptor variant | rs765150956 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter) | Single nucleotide variant | Chr9:35075062 | Pathogenic | Nonsense | rs2131053086 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter) | Single nucleotide variant | Chr9:35074991 | Pathogenic | Nonsense | rs1461242610 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter) | Single nucleotide variant | Chr9:35075291 | Pathogenic | Nonsense | rs2131053417 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter) | Single nucleotide variant | Chr9:35075523 | Likely pathogenic | Nonsense | rs2131053817 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) | Single nucleotide variant | Chr9:35075646 | Pathogenic/Likely pathogenic | Nonsense | rs886063896 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_004629.2(FANCG):c.1385C>A (p.Ala462Asp) | Single nucleotide variant | Chr9:35075513 | Uncertain significance | Missense variant | rs2131053797 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_004629.2(FANCG):c.346C>T (p.Gln116Ter) | Single nucleotide variant | Chr9:35078305 | Pathogenic | Nonsense | rs1829123346 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) | Single nucleotide variant | Chr9:35076861 | Pathogenic/Likely pathogenic | Nonsense | rs149721361 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter) | Single nucleotide variant | Chr15:89315372 | Pathogenic/Likely pathogenic | Nonsense | rs544848412 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_001113378.2(FANCI):c.295del (p.His99fs) | Deletion | Chr15:89261590 | Pathogenic/Likely pathogenic | Frameshift variant | rs759398314 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_018062.4(FANCL):c.1092G>A (p.Lys364=) | Single nucleotide variant | Chr2:58160108 | Pathogenic | Synonymous variant | rs577063114 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) | Single nucleotide variant | Chr3:10046667 | Conflicting classifications of pathogenicity | Nonsense | rs771869385 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
| NM_058216.3(RAD51C):c.571+1del | Deletion | Chr17:58696858 | Pathogenic/Likely pathogenic | Splice donor variant | rs1327086366 |
.Lifecell International Pvt. Ltd |
| NM_032444.4(SLX4):c.1163+2T>A | Single nucleotide variant | Chr16:3600977 | Pathogenic | Splice donor variant | rs773642409 | |
| NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser) | Single nucleotide variant | Chr16:89740044 | Uncertain significance | Missense variant|3 prime UTR variant|non-coding transcript variant | rs986710868 |
.Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution