"Ambry Genetics"[submitter] AND "BRCA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 940200	NM_000059.4(BRCA2):c.-40+1G>A	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 643446	NM_000059.4(BRCA2):c.-40+2T>C	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D1 +2 more	GConflicting classifications of pathogenicity
Select item 438974	NM_000059.4(BRCA2):c.-39-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GPathogenic/Likely pathogenic
Select item 421014	NM_000059.4(BRCA2):c.-39-1_-39del	BRCA2	Deletion (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 125965	NM_000059.4(BRCA2):c.-26G>A	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 628279	NM_000059.4(BRCA2):c.1del (p.Met1fs)	BRCA2	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 836487	NM_000059.4(BRCA2):c.-2A>G	BRCA2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 232627	NM_000059.4(BRCA2):c.-1A>T	BRCA2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 51384	NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)	BRCA2 (M1T)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GPathogenic/Likely pathogenic
Select item 51579	NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)	BRCA2 (M1I)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37872	NM_000059.4(BRCA2):c.3del (p.Met1fs)	BRCA2	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GPathogenic
Select item 51984	NM_000059.4(BRCA2):c.5C>T (p.Pro2Leu)	BRCA2 (P2L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1756632	NM_000059.4(BRCA2):c.6T>A (p.Pro2=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 482998	NM_000059.4(BRCA2):c.7dup (p.Ile3fs)	BRCA2 (I3fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 415659	NM_000059.4(BRCA2):c.6T>C (p.Pro2=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +3 more	GLikely benign
Select item 231466	NM_000059.4(BRCA2):c.7A>G (p.Ile3Val)	BRCA2 (I3V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 433743	NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)	BRCA2 (I3T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 51063	NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)	BRCA2 (G4*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 818568	NM_000059.4(BRCA2):c.11G>T (p.Gly4Val)	BRCA2 (G4V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187296	NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)	BRCA2 (G4A)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 141953	NM_000059.4(BRCA2):c.11G>A (p.Gly4Glu)	BRCA2 (G4E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1146992	NM_000059.4(BRCA2):c.12A>C (p.Gly4=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 921745	NM_000059.4(BRCA2):c.13T>C (p.Ser5Pro)	BRCA2 (S5P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1773975	NM_000059.4(BRCA2):c.14C>G (p.Ser5Cys)	BRCA2 (S5C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 421342	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2 (E7fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1776141	NM_000059.4(BRCA2):c.15C>T (p.Ser5=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1776131	NM_000059.4(BRCA2):c.15C>A (p.Ser5=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 51198	NM_000059.4(BRCA2):c.17_18del (p.Lys6fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 462252	NM_000059.4(BRCA2):c.20_23del (p.Glu7fs)	BRCA2 (E7fs)	Microsatellite (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 51267	NM_000059.4(BRCA2):c.22_23del (p.Arg8fs)	BRCA2 (R8fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 3225713	NM_000059.4(BRCA2):c.21G>A (p.Glu7=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 820873	NM_000059.4(BRCA2):c.21G>C (p.Glu7Asp)	BRCA2 (E7D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1445997	NM_000059.4(BRCA2):c.22A>G (p.Arg8Gly)	BRCA2 (R8G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 821375	NM_000059.4(BRCA2):c.24G>T (p.Arg8Ser)	BRCA2 (R8S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 415635	NM_000059.4(BRCA2):c.24G>A (p.Arg8=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 821553	NM_000059.4(BRCA2):c.25C>T (p.Pro9Ser)	BRCA2 (P9S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 51330	NM_000059.4(BRCA2):c.26del (p.Pro9fs)	BRCA2 (P9fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 184405	NM_000059.4(BRCA2):c.27A>G (p.Pro9=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 186603	NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)	BRCA2 (T10A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 375446	NM_000059.4(BRCA2):c.29C>A (p.Thr10Lys)	BRCA2 (T10K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GUncertain significance
Select item 219687	NM_000059.4(BRCA2):c.30A>G (p.Thr10=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51509	NM_000059.4(BRCA2):c.36dup (p.Glu13Ter)	BRCA2 (E13*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1692109	NM_000059.4(BRCA2):c.31T>C (p.Phe11Leu)	BRCA2 (F11L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 628204	NM_000059.4(BRCA2):c.31T>G (p.Phe11Val)	BRCA2 (F11V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 51508	NM_000059.4(BRCA2):c.36del (p.Phe12fs)	BRCA2 (F12fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1050202	NM_000059.4(BRCA2):c.32T>G (p.Phe11Cys)	BRCA2 (F11C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 481569	NM_000059.4(BRCA2):c.32_33delinsA (p.Phe11fs)	BRCA2 (F11fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 483127	NM_000059.4(BRCA2):c.33T>G (p.Phe11Leu)	BRCA2 (F11L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 51477	NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)	BRCA2 (F12V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142987	NM_000059.4(BRCA2):c.35T>C (p.Phe12Ser)	BRCA2 (F12S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 418560	NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)	BRCA2 (E13K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51527	NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter)	BRCA2 (E13*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1737852	NM_000059.4(BRCA2):c.41_63del (p.Ile14fs)	BRCA2 (I14fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 485409	NM_000059.4(BRCA2):c.39A>C (p.Glu13Asp)	BRCA2 (E13D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586303	NM_000059.4(BRCA2):c.44_45dup (p.Lys16fs)	BRCA2 (K16fs)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 254644	NM_000059.4(BRCA2):c.40A>G (p.Ile14Val)	BRCA2 (I14V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1739551	NM_000059.4(BRCA2):c.43_45del (p.Phe15del)	BRCA2 (F15del)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 929077	NM_000059.4(BRCA2):c.41T>A (p.Ile14Asn)	BRCA2 (I14N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 125984	NM_000059.4(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu)	BRCA2	Insertion (inframe_insertion)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 419023	NM_000059.4(BRCA2):c.43T>C (p.Phe15Leu)	BRCA2 (F15L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 233489	NM_000059.4(BRCA2):c.47A>G (p.Lys16Arg)	BRCA2 (K16R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 51814	NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)	BRCA2 (R18fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41552	NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile)	BRCA2 (T17I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 825534	NM_000059.4(BRCA2):c.51A>G (p.Thr17=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 184598	NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)	BRCA2 (R18C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 3227416	NM_000059.4(BRCA2):c.53G>T (p.Arg18Leu)	BRCA2 (R18L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 51855	NM_000059.4(BRCA2):c.53G>A (p.Arg18His)	BRCA2 (R18H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 1749161	NM_000059.4(BRCA2):c.56G>C (p.Cys19Ser)	BRCA2 (C19S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 236884	NM_000059.4(BRCA2):c.57C>T (p.Cys19=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 825981	NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC (p.Asn20delinsSerLeuGlnTer)	BRCA2	Insertion (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 91433	NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)	BRCA2 (N20S)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 483128	NM_000059.4(BRCA2):c.60C>T (p.Asn20=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 38033	NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)	BRCA2 (K21R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1753899	NM_000059.4(BRCA2):c.64G>A (p.Ala22Thr)	BRCA2 (A22T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1371106	NM_000059.4(BRCA2):c.66A>C (p.Ala22=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 826559	NM_000059.4(BRCA2):c.66A>G (p.Ala22=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 438999	NM_000059.4(BRCA2):c.66A>T (p.Ala22=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GUncertain significance
Select item 267656	NM_000059.4(BRCA2):c.67+1del	BRCA2	Deletion (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 225732	NM_000059.4(BRCA2):c.67G>A (p.Asp23Asn)	BRCA2 (D23N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 224450	NM_000059.4(BRCA2):c.67+1G>C	BRCA2	Single nucleotide variant (splice donor variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 52161	NM_000059.4(BRCA2):c.67+1G>T	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52160	NM_000059.4(BRCA2):c.67+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GPathogenic
Select item 431285	NM_000059.4(BRCA2):c.67+2T>G	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1755005	NM_000059.4(BRCA2):c.67+3A>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 826563	NM_000059.4(BRCA2):c.67+3A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 826564	NM_000059.4(BRCA2):c.67+4T>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 38061	NM_000059.4(BRCA2):c.67+4T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1755006	NM_000059.4(BRCA2):c.67+5T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 141429	NM_000059.4(BRCA2):c.67+5T>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GBenign
Select item 52188	NM_000059.4(BRCA2):c.68-7del	BRCA2	Deletion (intron variant)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
Select item 423011	NM_000059.4(BRCA2):c.68-8_68-7inv	BRCA2	Inversion (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 52187	NM_000059.4(BRCA2):c.68-7T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 481516	NM_000059.4(BRCA2):c.68-5A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184893	NM_000059.4(BRCA2):c.68-3T>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 187538	NM_000059.4(BRCA2):c.68-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 481036	NM_000059.4(BRCA2):c.68-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 409412	NM_000059.4(BRCA2):c.68-1G>T	BRCA2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GUncertain significance
Select item 1757654	NM_000059.4(BRCA2):c.71dup (p.Leu24fs)	BRCA2 (L24fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic

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