"Color Diagnostics, LLC DBA Color Health"[submitter] AND "BRCA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 566022	NM_000059.4(BRCA2):c.-40G>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 491197	NM_000059.4(BRCA2):c.-40G>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 491196	NM_000059.4(BRCA2):c.-40+7G>A	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 438975	NM_000059.4(BRCA2):c.-40+7G>T	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 125955	NM_000059.4(BRCA2):c.-39-16G>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 37715	NM_000059.4(BRCA2):c.-39-12_-39-10del	BRCA2	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 491195	NM_000059.4(BRCA2):c.-39-10T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 125956	NM_000059.4(BRCA2):c.-39-5del	BRCA2	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GBenign/Likely benign
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 495432	NM_000059.4(BRCA2):c.-15A>T	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 37714	NM_000059.4(BRCA2):c.-15A>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign/Likely benign
Select item 125972	NM_000059.4(BRCA2):c.-14T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 125974	NM_000059.4(BRCA2):c.-12T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 386906	NM_000059.4(BRCA2):c.-10G>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 37717	NM_000059.4(BRCA2):c.-9T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 2774867	NM_000059.4(BRCA2):c.-6G>A	BRCA2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 628279	NM_000059.4(BRCA2):c.1del (p.Met1fs)	BRCA2	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 96758	NM_000059.4(BRCA2):c.-3A>G	BRCA2	Single nucleotide variant (5 prime UTR variant)	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 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 51984	NM_000059.4(BRCA2):c.5C>T (p.Pro2Leu)	BRCA2 (P2L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 415659	NM_000059.4(BRCA2):c.6T>C (p.Pro2=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +3 more	GLikely benign
Select item 231466	NM_000059.4(BRCA2):c.7A>G (p.Ile3Val)	BRCA2 (I3V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 924336	NM_000059.4(BRCA2):c.9T>C (p.Ile3=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 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 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 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)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 578213	NM_000059.4(BRCA2):c.29C>T (p.Thr10Ile)	BRCA2 (T10I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 375446	NM_000059.4(BRCA2):c.29C>A (p.Thr10Lys)	BRCA2 (T10K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 cancer-predisposing 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 51477	NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)	BRCA2 (F12V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 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 cancer-predisposing syndrome +2 more	GUncertain significance
Select item 418560	NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)	BRCA2 (E13K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 967988	NM_000059.4(BRCA2):c.38_39inv (p.Glu13Val)	BRCA2 (E13V)	Inversion (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 1331801	NM_000059.4(BRCA2):c.42T>G (p.Ile14Met)	BRCA2 (I14M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 125984	NM_000059.4(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu)	BRCA2	Insertion (inframe_insertion)	not provided +4 more	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 184598	NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)	BRCA2 (R18C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
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 1608079	NM_000059.4(BRCA2):c.54C>T (p.Arg18=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 925740	NM_000059.4(BRCA2):c.55T>C (p.Cys19Arg)	BRCA2 (C19R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 630960	NM_000059.4(BRCA2):c.56G>A (p.Cys19Tyr)	BRCA2 (C19Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 491295	NM_000059.4(BRCA2):c.56G>T (p.Cys19Phe)	BRCA2 (C19F)	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 91433	NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)	BRCA2 (N20S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 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)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 438997	NM_000059.4(BRCA2):c.63A>G (p.Lys21=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 438999	NM_000059.4(BRCA2):c.66A>T (p.Ala22=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 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 38061	NM_000059.4(BRCA2):c.67+4T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 531536	NM_000059.4(BRCA2):c.67+8C>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 491306	NM_000059.4(BRCA2):c.67+13T>C	BRCA2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 220440	NM_000059.4(BRCA2):c.67+16A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 215435	NM_000059.4(BRCA2):c.67+17T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 391352	NM_000059.4(BRCA2):c.67+18A>G	BRCA2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 136553	NM_000059.4(BRCA2):c.67+19T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
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 415669	NM_000059.4(BRCA2):c.68-17A>G	BRCA2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 38065	NM_000059.4(BRCA2):c.68-7dup	BRCA2	Duplication (intron variant)	Hereditary breast ovarian cancer syndrome +12 more	GBenign/Likely benign
Select item 52188	NM_000059.4(BRCA2):c.68-7del	BRCA2	Deletion (intron variant)	BRCA2-related cancer predisposition	GBenignFDA Recognized database
Select item 52186	NM_000059.4(BRCA2):c.68-16T>A	BRCA2	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 423011	NM_000059.4(BRCA2):c.68-8_68-7inv	BRCA2	Inversion (intron variant)	not provided +2 more	GUncertain significance
Select item 925371	NM_000059.4(BRCA2):c.68-4dup	BRCA2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 462418	NM_000059.4(BRCA2):c.68-6A>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 187538	NM_000059.4(BRCA2):c.68-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 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)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 628280	NM_000059.4(BRCA2):c.68A>G (p.Asp23Gly)	BRCA2 (D23G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 462424	NM_000059.4(BRCA2):c.69T>C (p.Asp23=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GLikely benign
Select item 52285	NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)	BRCA2 (L24*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 629159	NM_000059.3(BRCA2):c.72_85delinsTTTAAATAGAT (p.Leu24_Leu29delinsPheLeuAsnArgPhe)	BRCA2	Indel	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 52318	NM_000059.4(BRCA2):c.73G>A (p.Gly25Arg)	BRCA2 (G25R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 415641	NM_000059.4(BRCA2):c.78A>G (p.Pro26=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52467	NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)	BRCA2 (I27V)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition +5 more	GConflicting classifications of pathogenicity
Select item 918341	NM_000059.4(BRCA2):c.89A>G (p.Asn30Ser)	BRCA2 (N30S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 184029	NM_000059.4(BRCA2):c.90T>C (p.Asn30=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52808	NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)	BRCA2 (W31*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 491386	NM_000059.4(BRCA2):c.96T>G (p.Phe32Leu)	BRCA2 (F32L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2774869	NM_000059.4(BRCA2):c.101_102insCCAATAAGTCTTA (p.Glu34delinsAspGlnTer)	BRCA2	Insertion (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 51041	NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)	BRCA2 (E34*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 232243	NM_000059.4(BRCA2):c.102A>G (p.Glu34=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 548439	NM_000059.4(BRCA2):c.106_109del (p.Ser36fs)	BRCA2 (S36fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182238	NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)	BRCA2 (S36F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GUncertain significance
Select item 479376	NM_000059.4(BRCA2):c.112G>A (p.Glu38Lys)	BRCA2 (E38K)	Single nucleotide variant (missense variant)	Breast cancer, susceptibility to +4 more	GUncertain significance
Select item 481575	NM_000059.4(BRCA2):c.114A>G (p.Glu38=)	BRCA2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 91748	NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)	BRCA2 (A39V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 51085	NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser)	BRCA2 (P41S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +6 more	GConflicting classifications of pathogenicity
Select item 184823	NM_000059.4(BRCA2):c.122C>T (p.Pro41Leu)	BRCA2 (P41L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GBenign/Likely benign
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 1332652	NM_000059.4(BRCA2):c.128A>T (p.Asn43Ile)	BRCA2 (N43I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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