Total 73 pathogenic variants reported for Multiple myeloma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter) SNV
Germline		 Chr13:108209531 Pathogenic/Likely pathogenic DNA ligase IV deficiency
Condition: not provided
Multiple myeloma
DNA ligase IV deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118972 rs_104894418

4 SubmittersRCV000008111RCV001092918RCV005007834
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) SNV
Germline		 Chr13:108208829 Pathogenic/Likely pathogenic DNA ligase IV deficiency
Condition: not provided
Inborn genetic diseases
Multiple myeloma
DNA ligase IV deficiency
prenatal LIG4 syndrome with aqueductal stenosis
LIG4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118975 rs_104894419

13 SubmittersRCV000008112RCV000399723RCV000623453RCV000763320RCV003483426RCV004532308
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV
Germline/somatic		 Chr17:7674220 Pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Sarcoma
Condition: not provided
Li-Fraumeni syndrome
Multiple myeloma
Neoplasm
11 conditions
Lymphoma
Ovarian neoplasm
Lip and oral cavity carcinoma
Rhabdomyosarcoma
Familial cancer of breast
Breast carcinoma
Ductal carcinoma in situ
Gastric cancer
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
TP53-related disorder
Adrenal cortex carcinoma
Hereditary breast ovarian cancer syndrome
Colorectal cancer
12 conditions		 Reviewed By Expert Panel
 CA000387 rs_11540652

44 SubmittersRCV000013150RCV000115736RCV000148913RCV000235221RCV000197114RCV000424869RCV000426606RCV000763417RCV000790860RCV000785344RCV001255671RCV001257519RCV001270275RCV001554245RCV001527465RCV003162244RCV003332079RCV003466852RCV004745155RCV003996090RCV004794335RCV004813032RCV005016259
NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV
Germline/somatic		 Chr17:7673802 Pathogenic Li-Fraumeni syndrome 1
Thyroid gland undifferentiated (anaplastic) carcinoma
Condition: not provided
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Malignant tumor of breast
Familial cancer of breast
Colorectal cancer
Multiple myeloma
Rhabdomyosarcoma
Gastric cancer
Adrenocortical carcinoma, hereditary
Breast and/or ovarian cancer
12 conditions
TP53-related disorder		 Reviewed By Expert Panel
 CA000434 rs_28934576

38 SubmittersRCV000013163RCV000013164RCV000254693RCV000422097RCV000431361RCV000441169RCV000463420RCV000115738RCV000785345RCV001358389RCV001527484RCV001527470RCV001257517RCV003162246RCV003466853RCV003492292RCV005003353RCV004797590
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) SNV
Germline/somatic		 Chr7:140753336 Conflicting classifications of pathogenicity Carcinoma of colon
Papillary thyroid carcinoma
Astrocytoma, low-grade, somatic
Nongerminomatous germ cell tumor
Non-small cell lung carcinoma
Melanoma
Condition: not provided
Cardio-facio-cutaneous syndrome
Multiple myeloma
Neoplasm
Cystic epithelial invagination containing papillae lined by columnar epithelium
Cerebral arteriovenous malformation
Colorectal cancer
Malignant neoplastic disease
Nephroblastoma
Lymphangioma
Vascular malformation
Cardiovascular phenotype
Thyroid gland undifferentiated (anaplastic) carcinoma
RASopathy		 Criteria Provided
Conflicting Classifications
 CA123643 rs_113488022

20 SubmittersRCV000014992RCV000014993RCV000014994RCV000022677RCV000037936RCV000067669RCV000080903RCV000208763RCV000430562RCV000443448RCV000662278RCV000860020RCV001030023RCV001254874RCV001248834RCV002051586RCV003458334RCV004018627RCV004719648RCV005089260
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) SNV
Germline/somatic		 Chr4:1806162 Pathogenic Spermatocytic seminoma
Multiple myeloma
Thanatophoric dysplasia, type 2
FGFR3-related disorder
Condition: not provided
Thanatophoric dysplasia type 1
Thanatophoric dysplasia
See cases
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126376 rs_78311289

19 SubmittersRCV000017730RCV000017729RCV000017728RCV004532376RCV000255799RCV003234912RCV003317039RCV003155029RCV005031441
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV
Germline/somatic		 Chr4:1801837 Pathogenic Thanatophoric dysplasia type 1
Multiple myeloma
Skeletal dysplasia with acanthosis nigricans
Epidermal nevus
Seborrheic keratosis
Condition: not provided
13 conditions
Cervical cancer
Achondroplasia
Connective tissue disorder
Hamartoma
FGFR3-related chondrodysplasia
Thanatophoric dysplasia, type 2
See cases
Malignant tumor of urinary bladder
Muenke syndrome
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
14 conditions
FGFR3-related disorder
14 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126378 rs_121913482

46 SubmittersRCV000017731RCV000017732RCV000017733RCV000017734RCV000017735RCV000327823RCV000414822RCV001196297RCV001804739RCV002276552RCV001526641RCV001849270RCV003388567RCV003155030RCV003332082RCV004798733RCV004795425RCV000763118RCV002243648RCV005025063
NM_000059.4(BRCA2):c.476-1G>A SNV
Germline		 Chr13:32326241 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Multiple myeloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA020789 rs_397507340

6 SubmittersRCV000031503RCV000772115RCV003529925RCV004595892
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) SNV
Germline/somatic		 Chr17:7673803 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided
Prostate cancer
Neoplasm
Multiple myeloma
Adrenocortical carcinoma, hereditary
TP53-related disorder
Ovarian neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000432 rs_121913343

26 SubmittersRCV000131966RCV000144665RCV000205625RCV000254692RCV000149051RCV000431786RCV004595896RCV003466889RCV004745172RCV000785470
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) SNV
Somatic		 Chr12:25227342 Pathogenic Non-small cell lung carcinoma
Multiple myeloma
Medullary thyroid carcinoma
Neoplasm		 Criteria Provided
Single Submitter
 CA210876 rs_121913240

4 SubmittersRCV000038258RCV000984128RCV004813050RCV004668757
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) SNV
Germline/somatic		 Chr12:25245350 Pathogenic/Likely pathogenic Non-small cell lung carcinoma
Multiple myeloma
Condition: not provided
Gallbladder cancer
KRAS-related disorder
12 conditions
Neoplasm
Lung cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA135567 rs_121913529

8 SubmittersRCV000038266RCV000984117RCV001355876RCV001374446RCV004549454RCV004795958RCV004668758RCV003996396
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) SNV
Germline		 Chr13:108208744 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma
Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency
not specified
LIG4-related disorder		 Criteria Provided
Conflicting Classifications
 CA7043477 rs_72660870

8 SubmittersRCV000272998RCV000763874RCV000857399RCV000383863RCV001820917RCV004537756
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) SNV
Germline/somatic		 Chr12:49031861 Pathogenic Condition: not provided
Kabuki syndrome 1
Multiple myeloma
KMT2D-related disorder
Neoplasm
Kabuki syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042794 rs_1057517992

11 SubmittersRCV000413702RCV000594502RCV000984092RCV004530513RCV004668916RCV003588627
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) SNV
Germline/somatic		 Chr12:25225628 Pathogenic/Likely pathogenic Multiple myeloma
Autoimmune lymphoproliferative syndrome type 4
RASopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602441 rs_121913527

3 SubmittersRCV000984134RCV002259922RCV001861474
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln) SNV
Germline		 Chr13:108209924 Conflicting classifications of pathogenicity not specified
DNA ligase IV deficiency
Multiple myeloma
DNA ligase IV deficiency		 Criteria Provided
Conflicting Classifications
 CA7043706 rs_758694012

3 SubmittersRCV000497617RCV001219812RCV005010417
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) SNV
Germline		 Chr13:108210557 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Conflicting Classifications
 CA7043808 rs_149012859

4 SubmittersRCV000823935RCV003224478
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) SNV
Somatic		 Chr1:50973993 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA340561091 rs_746646631

1 SubmittersRCV000984122
NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu) SNV
Somatic		 Chr2:239115264 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA2199751 rs_372078034

1 SubmittersRCV000984097
NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser) SNV
Somatic		 Chr2:25313978 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA346254529 rs_745380962

1 SubmittersRCV000984105
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys) SNV
Somatic		 Chr2:74048279 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA1718780 rs_751524927

1 SubmittersRCV000984091
NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile) SNV
Somatic		 Chr3:3152504 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA351450885 rs_1575079076

1 SubmittersRCV000984098
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr) SNV
Somatic		 Chr3:49898938 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA352896524 rs_1575446356

1 SubmittersRCV000984099
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr) SNV
Somatic		 Chr3:52403241 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA353098868 rs_1478603808

1 SubmittersRCV000984101
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys) SNV
Somatic		 Chr4:186707160 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA358986318 rs_1579484570

1 SubmittersRCV000984086
NM_005245.4(FAT1):c.720G>A (p.Met240Ile) SNV
Somatic		 Chr4:186709108 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA358990663 rs_1579491104

1 SubmittersRCV000984107
NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser) SNV
Somatic		 Chr6:134170860 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA365725596 rs_1171390403

1 SubmittersRCV000984130
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys) SNV
Somatic		 Chr6:149680019 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA366022210 rs_1582867955

1 SubmittersRCV000984108
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln) SNV
Somatic		 Chr6:26020889 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA363179670 rs_764264135

1 SubmittersRCV000984119
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro) SNV
Somatic		 Chr6:26156523 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA363201356 rs_951047896

1 SubmittersRCV000984116
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly) SNV
Somatic		 Chr6:27865398 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA362884933 rs_890521687

1 SubmittersRCV000984102
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys) SNV
Somatic		 Chr6:27892786 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA362897928 rs_1581495906

1 SubmittersRCV000984095
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu) SNV
Somatic		 Chr7:152176272 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA370076159 rs_1587941402

1 SubmittersRCV000984093
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro) SNV
Somatic		 Chr7:152176316 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA370076257 rs_1003155450

1 SubmittersRCV000984115
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn) SNV
Somatic		 Chr9:134417218 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA375438441 rs_1588299621

1 SubmittersRCV000984088
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys) SNV
Somatic		 Chr11:102114310 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA382288737 rs_1591100766

1 SubmittersRCV000984109
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys) SNV
Somatic		 Chr11:108297382 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA382538598 rs_1591693095

1 SubmittersRCV000984123
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser) SNV
Somatic		 Chr12:111447395 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA243598589 rs_1029296641

1 SubmittersRCV000984129
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr) SNV
Somatic		 Chr12:124336959 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA387209236 rs_1593107841

1 SubmittersRCV000984103
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His) SNV
Somatic		 Chr13:28034205 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA387641130 rs_1208575764

1 SubmittersRCV000984136
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe) SNV
Somatic		 Chr13:72761930 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA388284052 rs_1593835248

1 SubmittersRCV000984121
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr) SNV
Somatic		 Chr14:36519012 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA389460348 rs_1594406727

1 SubmittersRCV000984090
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter) SNV
Somatic		 Chr14:58364703 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA389874855 rs_1594966387

1 SubmittersRCV000984133
NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln) SNV
Somatic		 Chr15:41729239 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA391819605 rs_1595889508

1 SubmittersRCV000984110
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val) SNV
Somatic		 Chr16:3729859 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA394557777 rs_1159294530

1 SubmittersRCV000984087
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn) SNV
Somatic		 Chr17:31327706 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA399009525 rs_1135402871

1 SubmittersRCV000984132
NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr) SNV
Somatic		 Chr19:1612327 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA403048759 rs_1599413207

1 SubmittersRCV000984089
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter) SNV
Somatic		 Chr19:18161159 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA404805257 rs_1418268495

1 SubmittersRCV000984100
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met) SNV
Somatic		 Chr19:18162000 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA404806745 rs_1212577459

1 SubmittersRCV000984112
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln) SNV
Somatic		 Chr20:36946754 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA408830449 rs_1600394490

1 SubmittersRCV000984113
NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu) SNV
Somatic		 Chr20:56370332 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA409697381 rs_1455074519

1 SubmittersRCV000984118
NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter) SNV
Somatic		 ChrX:130015014 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA414589355 rs_1603113792

1 SubmittersRCV000984114
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys) SNV
Somatic		 ChrX:20132224 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA412507801 rs_1603415028

1 SubmittersRCV000984125
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter) SNV
Somatic		 ChrX:53224823 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA413134234 rs_1602247047

1 SubmittersRCV000984096
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) SNV
Somatic		 ChrX:1465690 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA412240461 rs_1603452612

1 SubmittersRCV000984127
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) SNV
Somatic		 ChrY:1465690 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
 CA412240461 rs_1603452612

1 SubmittersRCV000984127
NM_206937.2(LIG4):c.1242A>C (p.Val414=) SNV
Germline		 Chr13:108210027 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Conflicting Classifications
 CA7043726 rs_150828164

2 SubmittersRCV001027792RCV003224505
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) SNV
Germline		 Chr13:108210578 Conflicting classifications of pathogenicity DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma
not specified		 Criteria Provided
Conflicting Classifications
 CA7043809 rs_3093765

3 SubmittersRCV001035435RCV002481849RCV003151267
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu) SNV
Germline		 Chr13:108210436 Pathogenic DNA ligase IV deficiency
Severe combined immunodeficiency disease
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388619863 rs_104894421

3 SubmittersRCV003509002RCV004690433RCV005013036
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter) SNV
Germline		 Chr13:108210392 Pathogenic/Likely pathogenic DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256182179 rs_948441067

2 SubmittersRCV003621332RCV005013102