ClinVar Miner

List of variants in gene BRCA2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 47
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HGVS dbSNP
NM_000059.3(BRCA2):c.10051G>C (p.Ala3351Pro) rs786204285
NM_000059.3(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.3(BRCA2):c.1480G>A (p.Val494Met) rs1555281919
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.2045T>C (p.Ile682Thr) rs398122739
NM_000059.3(BRCA2):c.2077_2083delinsAACAGTT (p.Cys693_Lys695delinsAsnSerTer) rs1566226077
NM_000059.3(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.3(BRCA2):c.2396A>G (p.Lys799Arg) rs1555282656
NM_000059.3(BRCA2):c.2848G>A (p.Val950Ile) rs775903570
NM_000059.3(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295
NM_000059.3(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.3(BRCA2):c.3965A>C (p.Asn1322Thr) rs80358646
NM_000059.3(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657
NM_000059.3(BRCA2):c.4118T>C (p.Met1373Thr) rs750581150
NM_000059.3(BRCA2):c.4591A>G (p.Lys1531Glu) rs1555283865
NM_000059.3(BRCA2):c.4942G>A (p.Ala1648Thr) rs786202248
NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.3(BRCA2):c.5644T>C (p.Ser1882Pro) rs730881538
NM_000059.3(BRCA2):c.5839C>T (p.Pro1947Ser) rs80358812
NM_000059.3(BRCA2):c.5860A>G (p.Thr1954Ala) rs1566233345
NM_000059.3(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377
NM_000059.3(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912
NM_000059.3(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.3(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862
NM_000059.3(BRCA2):c.6613G>A (p.Val2205Met) rs80358889
NM_000059.3(BRCA2):c.6738A>G (p.Pro2246=) rs760272304
NM_000059.3(BRCA2):c.7095T>A (p.His2365Gln) rs370708814
NM_000059.3(BRCA2):c.7436-4A>G rs81002904
NM_000059.3(BRCA2):c.7484T>C (p.Ile2495Thr) rs80358974
NM_000059.3(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.3(BRCA2):c.8034_8046delinsA (p.Asp2679_Ala2682del) rs886040866
NM_000059.3(BRCA2):c.8125A>G (p.Ser2709Gly) rs398122596
NM_000059.3(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.3(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.3(BRCA2):c.8346T>G (p.Ser2782Arg) rs1566248645
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.8431G>C (p.Asp2811His) rs1566248867
NM_000059.3(BRCA2):c.8542G>C (p.Glu2848Gln) rs587781893
NM_000059.3(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204
NM_000059.3(BRCA2):c.8739C>G (p.Asp2913Glu) rs786201996
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000059.3(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171
NM_000059.3(BRCA2):c.9898C>T (p.Pro3300Ser) rs770868371

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