"GeneDx"[submitter] AND "BRCA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 209599	NM_000059.4(BRCA2):c.-175C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 387446	NM_000059.4(BRCA2):c.-60A>G	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 506545	NM_000059.4(BRCA2):c.-56C>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 514121	NM_000059.4(BRCA2):c.-55_-52delinsCTCCGCG	BRCA2, LOC106721785	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 209600	NM_000059.4(BRCA2):c.-52A>G	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 384062	NM_000059.4(BRCA2):c.-51C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 420553	NM_000059.4(BRCA2):c.-42_-41del	BRCA2, LOC106721785	Deletion (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 252427	NM_000059.4(BRCA2):c.-41G>A	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 419639	NM_000059.4(BRCA2):c.-40+5G>T	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 209930	NM_000059.4(BRCA2):c.-40+164G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209601	NM_000059.4(BRCA2):c.-40+222C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209603	NM_000059.4(BRCA2):c.-39-332G>T	BRCA2, LOC130009523	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37715	NM_000059.4(BRCA2):c.-39-12_-39-10del	BRCA2	Microsatellite (intron variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 1151616	NM_000059.4(BRCA2):c.-39-8T>C	BRCA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 421345	NM_000059.4(BRCA2):c.-26_-25delinsAG	BRCA2	Indel (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome +1 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 381020	NM_000059.4(BRCA2):c.-23T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 37714	NM_000059.4(BRCA2):c.-15A>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 125972	NM_000059.4(BRCA2):c.-14T>C	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +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 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)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 421342	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2 (E7fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 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)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 51508	NM_000059.4(BRCA2):c.36del (p.Phe12fs)	BRCA2 (F12fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 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 1223119	NM_000059.4(BRCA2):c.45dup (p.Lys16Ter)	BRCA2 (K16*)	Duplication (nonsense)	not provided +1 more	GPathogenic
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 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 +3 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 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 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 52163	NM_000059.4(BRCA2):c.67+2T>C	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GPathogenic
Select item 508956	NM_000059.4(BRCA2):c.67+8C>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 220440	NM_000059.4(BRCA2):c.67+16A>G	BRCA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 135812	NM_000059.4(BRCA2):c.67+16A>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
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)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136553	NM_000059.4(BRCA2):c.67+19T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GBenign/Likely benign
Select item 1190473	NM_000059.4(BRCA2):c.67+971T>G	BRCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 209607	NM_000059.4(BRCA2):c.67+1042A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209608	NM_000059.4(BRCA2):c.67+1102T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209609	NM_000059.4(BRCA2):c.67+1134T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209618	NM_000059.4(BRCA2):c.68-329G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 513158	NM_000059.4(BRCA2):c.68-20G>A	BRCA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 381496	NM_000059.4(BRCA2):c.68-20G>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 415669	NM_000059.4(BRCA2):c.68-17A>G	BRCA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 38065	NM_000059.4(BRCA2):c.68-7dup	BRCA2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +12 more	GBenign/Likely benign
Select item 52188	NM_000059.4(BRCA2):c.68-7del	BRCA2	Deletion (intron variant)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
Select item 52186	NM_000059.4(BRCA2):c.68-16T>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GLikely benign
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 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 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 409412	NM_000059.4(BRCA2):c.68-1G>T	BRCA2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GUncertain significance
Select item 462424	NM_000059.4(BRCA2):c.69T>C (p.Asp23=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +3 more	GLikely benign
Select item 52318	NM_000059.4(BRCA2):c.73G>A (p.Gly25Arg)	BRCA2 (G25R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer 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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 418074	NM_000059.4(BRCA2):c.83G>A (p.Ser28Asn)	BRCA2 (S28N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 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 481540	NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly)	BRCA2 (W31G)	Single nucleotide variant (missense variant)	Malignant tumor of breast +4 more	GConflicting classifications of pathogenicity
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 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 182238	NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)	BRCA2 (S36F)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 234881	NM_000059.4(BRCA2):c.109T>G (p.Ser37Ala)	BRCA2 (S37A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 481575	NM_000059.4(BRCA2):c.114A>G (p.Glu38=)	BRCA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 51074	NM_000059.4(BRCA2):c.115del (p.Ala39fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91748	NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)	BRCA2 (A39V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 422823	NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)	BRCA2 (E45fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 51111	NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)	BRCA2 (P46S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 381246	NM_000059.4(BRCA2):c.141A>G (p.Ala47=)	BRCA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 489742	NM_000059.4(BRCA2):c.142G>A (p.Glu48Lys)	BRCA2 (E48K)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
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 531375	NM_000059.4(BRCA2):c.161dup (p.Asn54fs)	BRCA2 (N54fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 482973	NM_000059.4(BRCA2):c.159A>G (p.Lys53=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 96767	NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)	BRCA2 (N56del)	Microsatellite (inframe_deletion)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 419713	NM_000059.4(BRCA2):c.162del (p.Asn54fs)	BRCA2 (N54fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51167	NM_000059.4(BRCA2):c.164A>G (p.Asn55Ser)	BRCA2 (N55S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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