ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 53
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HGVS dbSNP
NM_000059.3(BRCA2):c.1188_1189insTTAG (p.Gln397fs) rs1555281767
NM_000059.3(BRCA2):c.1265del (p.Asn422fs) rs80359273
NM_000059.3(BRCA2):c.1329del (p.Asn444fs) rs869320781
NM_000059.3(BRCA2):c.1670T>G (p.Leu557Ter) rs80358452
NM_000059.3(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.3(BRCA2):c.1763_1766del (p.Asn588fs) rs80359303
NM_000059.3(BRCA2):c.1832C>A (p.Ser611Ter) rs80358474
NM_000059.3(BRCA2):c.2099_2102TATT[1] (p.Phe701fs) rs80359324
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.3(BRCA2):c.3689del (p.Ser1230fs) rs80359398
NM_000059.3(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer) rs786203340
NM_000059.3(BRCA2):c.4258del (p.Asp1420fs) rs80359436
NM_000059.3(BRCA2):c.4462_4463CA[1] (p.His1488fs) rs397507720
NM_000059.3(BRCA2):c.4474_4477AAAG[1] (p.Glu1493fs) rs80359454
NM_000059.3(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.3(BRCA2):c.4689G>A (p.Trp1563Ter) rs886038108
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.3(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.3(BRCA2):c.5585_5588del (p.Val1862fs) rs80359523
NM_000059.3(BRCA2):c.572_573AT[1] (p.Met192fs) rs80359533
NM_000059.3(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.3(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.5992C>T (p.Gln1998Ter) rs397507819
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.6534_6535insA (p.Val2179fs) rs1555284746
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616
NM_000059.3(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.3(BRCA2):c.751_754ACAG[1] (p.Asp252fs) rs80359659
NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981
NM_000059.3(BRCA2):c.7681C>T (p.Gln2561Ter) rs80358994
NM_000059.3(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.3(BRCA2):c.7977-1G>C rs81002874
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8548_8551del (p.Glu2850fs) rs397507406
NM_000059.3(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.3(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.3(BRCA2):c.8837T>A (p.Leu2946Ter) rs431825371
NM_000059.3(BRCA2):c.8898_8899CA[1] (p.Thr2967fs)
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9235del (p.Val3079fs) rs397507422
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.930_931del (p.Cys311fs) rs80359755
NM_000059.3(BRCA2):c.9871del (p.Ser3291fs) rs886040854

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