ClinVar Miner

List of variants in gene BRCA2 reported by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) rs80358438
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter) rs80358474
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter) rs397507624
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter) rs80358546
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter) rs80358573
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) rs80358659
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs) rs276174842
NM_000059.4(BRCA2):c.4530del (p.Glu1511fs) rs886040537
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.4983_4986del (p.Pro1660_Tyr1661insTer) rs1593904052
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter) rs397507758
NM_000059.4(BRCA2):c.5119dup (p.Thr1707fs) rs886040567
NM_000059.4(BRCA2):c.5197_5198del (p.Ser1733fs) rs876660228
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter) rs397507778
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs) rs397507784
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs) rs397507787
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter) rs80358844
NM_000059.4(BRCA2):c.6100delinsTA (p.Arg2034Ter) rs1566233919
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6421_6424dup (p.Ser2142fs) rs1566234560
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer) rs80359592
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs) rs397507862
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs) rs397507865
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs) rs80359613
NM_000059.4(BRCA2):c.6814del (p.Arg2272fs) rs397507885
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter) rs397507910
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter) rs397507937
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7892T>C (p.Leu2631Pro) rs2072746856
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter) rs276174900
NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs) rs397507952
NM_000059.4(BRCA2):c.8029del (p.Glu2677fs) rs80359691
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter) rs397507965
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs) rs276174907
NM_000059.4(BRCA2):c.8423_8427delinsA (p.Leu2808fs) rs2072821453
NM_000059.4(BRCA2):c.8487+2T>G rs886040944
NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter) rs1057517865
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8808del (p.Asn2937fs) rs1566252592
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter) rs80359144
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter) rs80359199
NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter) rs886040852

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