"ITMI"[submitter] AND "BRCA2"[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37734	NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)	BRCA2 (Y42C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51185	NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)	BRCA2 (P59A)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 133741	NM_000059.4(BRCA2):c.193C>T (p.Pro65Ser)	BRCA2 (P65S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 51258	NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)	BRCA2 (A75P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 133742	NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)	BRCA2 (L86P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 133743	NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)	BRCA2 (H114Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GUncertain significance
Select item 51644	NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)	BRCA2 (Q147R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126202	NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)	BRCA2	Duplication (inframe_insertion)	Familial cancer of breast +5 more	GUncertain significance
Select item 52326	NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)	BRCA2 (A248T)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 41567	NM_000059.4(BRCA2):c.865A>C (p.Asn289His)	BRCA2 (N289H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52898	NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)	BRCA2 (S326R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9329	NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	BRCA2 (N372H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41541	NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	BRCA2 (S384F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 133726	NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe)	BRCA2 (S581F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 51192	NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)	BRCA2 (D596H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41543	NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)	BRCA2 (T598A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51197	NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)	BRCA2 (Y600H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51249	NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)	BRCA2 (Q713L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 37781	NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)	BRCA2 (T774A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 41544	NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)	BRCA2 (M784V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 133734	NM_000059.4(BRCA2):c.2471T>C (p.Leu824Ser)	BRCA2 (L824S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 133735	NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His)	BRCA2 (Y839H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 51343	NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51349	NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)	BRCA2 (D935N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +12 more	GBenign/Likely benign
Select item 51360	NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)	BRCA2 (V950D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 133728	NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)	BRCA2 (K964N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51372	NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)	BRCA2 (S976I)	Indel (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 51379	NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41545	NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)	BRCA2 (N991D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 133733	NM_000059.4(BRCA2):c.3358G>C (p.Glu1120Gln)	BRCA2 (E1120Q)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 51465	NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)	BRCA2 (M1149V)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +7 more	GBenign/Likely benign
Select item 133731	NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val)	BRCA2 (A1162V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 37863	NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)	BRCA2 (C1290Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51588	NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)	BRCA2 (T1354M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51592	NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)	BRCA2 (I1364L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37886	NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)	BRCA2 (Q1396R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51616	NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41549	NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)	BRCA2 (D1420Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51695	NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)	BRCA2 (H1561N)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 41551	NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)	BRCA2 (E1593D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 133729	NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)	BRCA2 (D1737V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133730	NM_000059.4(BRCA2):c.5230A>G (p.Ser1744Gly)	BRCA2 (S1744G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133736	NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)	BRCA2 (V1804A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37969	NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)	BRCA2 (S1832C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51896	NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)	BRCA2 (N1880K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51912	NM_000059.4(BRCA2):c.5704G>A	BRCA2	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41556	NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)	BRCA2 (T1915M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41558	NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)	BRCA2 (R2034C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52012	NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)	BRCA2 (R2034H)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133732	NM_000059.4(BRCA2):c.6112C>T (p.His2038Tyr)	BRCA2 (H2038Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 38027	NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)	BRCA2 (S2072C)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 38028	NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)	BRCA2 (H2074N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41559	NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)	BRCA2 (R2108C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41561	NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)	BRCA2 (H2116R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52087	NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)	BRCA2 (V2138F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 52088	NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp)	BRCA2 (V2138D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 38071	NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly)	BRCA2 (E2292G)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 52249	NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)	BRCA2 (K2339N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38081	NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)	BRCA2 (A2351G)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 52260	NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)	BRCA2 (G2353R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38086	NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)	BRCA2 (Q2384K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 133737	NM_000059.4(BRCA2):c.7160C>T (p.Ala2387Val)	BRCA2 (A2387V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 41562	NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)	BRCA2 (H2440R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 133738	NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala)	BRCA2 (V2466A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GBenign
Select item 96852	NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	BRCA2 (I2490T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52347	NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)	BRCA2 (G2508S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +8 more	GConflicting classifications of pathogenicity
Select item 38102	NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)	BRCA2 (T2515I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41564	NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)	BRCA2 (A2717S)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
Select item 41565	NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)	BRCA2 (V2728I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38142	NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)	BRCA2 (K2729N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52602	NM_000059.4(BRCA2):c.8487+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52606	NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)	BRCA2 (S2835P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41569	NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)	BRCA2 (I2944F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52692	NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)	BRCA2 (K2950N)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 41570	NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)	BRCA2 (A2951T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38211	NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)	BRCA2 (Y3035S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 38220	NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)	BRCA2 (V3079I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38227	NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)	BRCA2 (Y3098H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52875	NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)	BRCA2	Indel (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38257	NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)	BRCA2 (G3212R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 41572	NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)	BRCA2 (V3244I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 133740	NM_000059.4(BRCA2):c.9853C>A (p.Pro3285Thr)	BRCA2 (P3285T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 52918	NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)	BRCA2 (E3309K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 38266	NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	BRCA2 (K3326*)	Single nucleotide variant (nonsense)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
Select item 51047	NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)	BRCA2 (T3374I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41540	NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)	BRCA2 (I3412V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign

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Items: 86