"Genetics Program, Instituto Nacional de Cancer"[submitter] AND "BRCA2 - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 125976	NM_000059.4(BRCA2):c.-11C>T	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51385	NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)	BRCA2 (M1R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
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 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 37803	NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)	BRCA2 (P94S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 51428	NM_000059.4(BRCA2):c.322A>C (p.Asn108His)	BRCA2 (N108H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51060	NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)	BRCA2 (Q347R)	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 51093	NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125943	NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51193	NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)	BRCA2	Single nucleotide variant (synonymous 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 1684259	NM_000059.4(BRCA2):c.1849del (p.Ser617fs)	BRCA2 (S617fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 136554	NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 491214	NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val)	BRCA2 (D685V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 125979	NM_000059.4(BRCA2):c.2229T>C (p.His743=)	BRCA2	Single nucleotide variant (synonymous 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 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37805	NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val)	BRCA2	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 434527	NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr)	BRCA2 (S976T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 434528	NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe)	BRCA2 (S976F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
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 51435	NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 387894	NM_000059.4(BRCA2):c.3381T>C (p.Phe1127=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 126010	NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126022	NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51589	NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)	BRCA2	Single nucleotide variant (synonymous 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 96805	NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)	BRCA2 (A1395S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 132779	NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 1041702	NM_000059.4(BRCA2):c.4616T>C (p.Leu1539Ser)	BRCA2 (L1539S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 182288	NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51765	NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)	BRCA2 (D1699G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 266861	NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)	BRCA2 (Y1739*)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37958	NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)	BRCA2 (G1771D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 132781	NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51892	NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	BRCA2 (K1872fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51891	NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)	BRCA2 (S1871N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 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 37995	NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)	BRCA2 (D1923A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 185665	NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)	BRCA2 (M1936I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 51982	NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)	BRCA2 (A1996T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
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 266928	NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter)	BRCA2 (S2052*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 38037	NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)	BRCA2 (R2108H)	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 132780	NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52191	NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)	BRCA2 (R2268K)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 234463	NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)	BRCA2 (I2330V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 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 126133	NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 52317	NM_000059.4(BRCA2):c.7397= (p.Val2466=)	BRCA2 (A2466V)	Single nucleotide variant (no sequence alteration)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 757315	NM_000059.4(BRCA2):c.7416G>A (p.Lys2472=)	BRCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 38096	NM_000059.4(BRCA2):c.7435+6G>A	BRCA2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
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 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 52392	NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)	BRCA2 (E2571G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 52412	NM_000059.4(BRCA2):c.7805+6C>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 827465	NM_000059.4(BRCA2):c.8122A>G (p.Thr2708Ala)	BRCA2 (T2708A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 52536	NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52594	NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38163	NM_000059.4(BRCA2):c.8487+8G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GBenign/Likely benign
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 52655	NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)	BRCA2 (L2890I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38179	NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)	BRCA2 (Q2899*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 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 418600	NM_000059.4(BRCA2):c.8940del (p.Glu2981fs)	BRCA2 (E2981fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 141104	NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)	BRCA2 (K3015E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 38229	NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)	BRCA2 (Y3098*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52826	NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	BRCA2 (R3128*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38242	NM_000059.4(BRCA2):c.9501+3A>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38262	NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)	BRCA2 (P3243L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 52897	NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)	BRCA2 (K3257R)	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 51043	NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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
Select item 126018	NM_000059.3(BRCA2):c.156_157insAlu	BRCA2	Insertion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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Items: 94