"Department of Pathology and Laboratory Medicine, Sinai Health System" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433741	NM_000059.4(BRCA2):c.-50_-48del	BRCA2, LOC106721785	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 433742	NM_000059.4(BRCA2):c.-39-36C>G	BRCA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 37715	NM_000059.4(BRCA2):c.-39-12_-39-10del	BRCA2	Microsatellite (intron variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
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 37714	NM_000059.4(BRCA2):c.-15A>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
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 927174	NM_000059.4(BRCA2):c.-10G>A	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 433743	NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)	BRCA2 (I3T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 187296	NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)	BRCA2 (G4A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
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 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 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 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 826563	NM_000059.4(BRCA2):c.67+3A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 125991	NM_000059.4(BRCA2):c.67+62T>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 433744	NM_000059.4(BRCA2):c.68-17del	BRCA2	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
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 433845	NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)	BRCA2	Deletion	not provided +1 more	GPathogenic/Likely pathogenic
Select item 184893	NM_000059.4(BRCA2):c.68-3T>G	BRCA2	Single nucleotide variant (intron variant)	not specified +5 more	GUncertain significance
Select item 1048907	NM_000059.4(BRCA2):c.68-2_316+1del	BRCA2	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 409412	NM_000059.4(BRCA2):c.68-1G>T	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 52467	NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)	BRCA2 (I27V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 479376	NM_000059.4(BRCA2):c.112G>A (p.Glu38Lys)	BRCA2 (E38K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GUncertain significance
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 51129	NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	BRCA2 (E49*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51185	NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)	BRCA2 (P59A)	Single nucleotide variant (missense variant)	BRCA2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 51234	NM_000059.4(BRCA2):c.198A>G (p.Gln66=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51269	NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37783	NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)	BRCA2 (I79V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 385599	NM_000059.4(BRCA2):c.240A>T (p.Ile80=)	BRCA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 433746	NM_000059.4(BRCA2):c.246del (p.Glu83fs)	BRCA2 (E83fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 135794	NM_000059.4(BRCA2):c.267G>A (p.Pro89=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51339	NM_000059.4(BRCA2):c.276dup (p.Ser93fs)	BRCA2 (S93fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37799	NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)	BRCA2 (Q92*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37803	NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)	BRCA2 (P94S)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 51406	NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)	BRCA2 (L105*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 236846	NM_000059.4(BRCA2):c.316+13A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 188421	NM_000059.4(BRCA2):c.316+108A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 433747	NM_000059.4(BRCA2):c.317-133dup	BRCA2	Duplication (intron variant)	not specified	GLikely benign
Select item 433748	NM_000059.4(BRCA2):c.317-15A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 51430	NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)	BRCA2 (N108S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 91803	NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)	BRCA2 (R118C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +6 more	GConflicting classifications of pathogenicity
Select item 629939	NM_000059.4(BRCA2):c.364A>G (p.Thr122Ala)	BRCA2 (T122A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 225712	NM_000059.4(BRCA2):c.425+33A>G	BRCA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 126095	NM_000059.4(BRCA2):c.425+67A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126098	NM_000059.4(BRCA2):c.426-89T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 433749	NM_000059.4(BRCA2):c.426-37dup	BRCA2	Duplication (intron variant)	not specified	GLikely benign
Select item 51621	NM_000059.4(BRCA2):c.426-37T>A	BRCA2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 433750	NM_000059.4(BRCA2):c.426-22G>T	BRCA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 91817	NM_000059.4(BRCA2):c.426-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GPathogenic/Likely pathogenic
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 51645	NM_000059.4(BRCA2):c.441A>G (p.Gln147=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51674	NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys)	BRCA2 (T152K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51701	NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51698	NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1049119	NM_000059.4(BRCA2):c.475+5G>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 37925	NM_000059.4(BRCA2):c.476-3C>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37941	NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	BRCA2 (K169R)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 433751	NM_000059.4(BRCA2):c.516+14del	BRCA2	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 132764	NM_000059.4(BRCA2):c.516+14C>T	BRCA2	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 433752	NM_000059.4(BRCA2):c.516+102T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 433753	NM_000059.4(BRCA2):c.517-105A>G	BRCA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 51799	NM_000059.4(BRCA2):c.517-19C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51802	NM_000059.4(BRCA2):c.517-4C>G	BRCA2	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D1 +5 more	GConflicting classifications of pathogenicity
Select item 1048937	NM_000059.4(BRCA2):c.517-2_631+1del	BRCA2	Deletion (splice acceptor variant +1 more)	Malignant tumor of breast	GPathogenic
Select item 51801	NM_000059.4(BRCA2):c.517-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182177	NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)	BRCA2 (G173R)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 51851	NM_000059.4(BRCA2):c.538_539dup (p.Ser181fs)	BRCA2 (S181fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37993	NM_000059.4(BRCA2):c.574_575del (p.Met192fs)	BRCA2 (M192fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52015	NM_000059.4(BRCA2):c.610del (p.Ser205fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182278	NM_000059.4(BRCA2):c.627C>T (p.Leu209=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52058	NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)	BRCA2 (V211I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 9349	NM_000059.4(BRCA2):c.631+2T>G	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 433754	NM_000059.4(BRCA2):c.631+6A>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 96835	NM_000059.4(BRCA2):c.631+7A>G	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 225713	NM_000059.4(BRCA2):c.631+25C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GBenign/Likely benign
Select item 209652	NM_000059.4(BRCA2):c.631+183T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52060	NM_000059.4(BRCA2):c.632-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 489776	NM_000059.4(BRCA2):c.674C>T (p.Thr225Ile)	BRCA2 (T225I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 126192	NM_000059.4(BRCA2):c.681+56C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38067	NM_000059.4(BRCA2):c.682-12_682-11del	BRCA2	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 1050166	NM_000059.4(BRCA2):c.682-2_793+1del	BRCA2	Deletion (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 38079	NM_000059.4(BRCA2):c.700del (p.Ser234fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 183182	NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)	BRCA2 (E238*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 433756	NM_000059.4(BRCA2):c.745_757del (p.Ser249fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38103	NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)	BRCA2 (D252fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9326	NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 188425	NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52437	NM_000059.4(BRCA2):c.793+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GPathogenic
Select item 433757	NM_000059.4(BRCA2):c.793+6T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 433758	NM_000059.4(BRCA2):c.793+12G>A	BRCA2	Single nucleotide variant (intron variant)	Malignant tumor of breast	GLikely benign
Select item 52441	NM_000059.4(BRCA2):c.794-11T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GBenign/Likely benign
Select item 52472	NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)	BRCA2 (G267E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 38152	NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)	BRCA2 (N277K)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
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 236925	NM_000059.4(BRCA2):c.898G>A (p.Val300Ile)	BRCA2 (V300I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1050114	NM_000059.4(BRCA2):c.908C>T (p.Ser303Phe)	BRCA2 (S303F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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