ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Michigan Medical Genetics Laboratories, University of Michigan

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3:c.9452_9466dupinsKF898916.1:g.95_515
NM_000059.4(BRCA2):c.1329del (p.Asn444fs) rs869320781
NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter) rs80358464
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.3323del (p.Lys1108fs) rs869320782
NM_000059.4(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.407del (p.Asn136fs) rs80359425
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs) rs869320783
NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs) rs869320793
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.5166dup (p.Thr1723fs) rs869320794
NM_000059.4(BRCA2):c.5171_5172dup (p.Ala1725Ter) rs587782075
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) rs80358870
NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs) rs397507849
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6676_6677del (p.Glu2226fs) rs80359619
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs) rs80359659
NM_000059.4(BRCA2):c.7567_7568del (p.Leu2523fs) rs80359664
NM_000059.4(BRCA2):c.7575del (p.Ala2526fs) rs869320797
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.8566_8567delinsC (p.Glu2856fs) rs869320798
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs) rs869320799
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9053_9057del (p.Ser3018fs) rs869320800
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419

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