"Genomic Center, National Cancer Institute"[submitter] AND "BRCA2"[gen - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696817	NM_000059.4(BRCA2):c.18del (p.Glu7fs)	BRCA2 (E7fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696818	NM_000059.4(BRCA2):c.35_36del (p.Phe11_Phe12insTer)	BRCA2	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1012165	NM_000059.4(BRCA2):c.691_692delinsGA (p.Ser231Asp)	BRCA2 (S231D)	Indel (missense variant)	Familial cancer of breast	GPathogenic
Select item 1012164	NM_000059.4(BRCA2):c.728del (p.Asn243fs)	BRCA2 (N243fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1696795	NM_000059.4(BRCA2):c.937del (p.Ser313fs)	BRCA2 (S313fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1696796	NM_000059.4(BRCA2):c.966del (p.Lys322_Val323insTer)	BRCA2	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696819	NM_000059.4(BRCA2):c.1037del (p.Asn346fs)	BRCA2 (N346fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1012163	NM_000059.4(BRCA2):c.1053del (p.Lys351fs)	BRCA2 (K351fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 266641	NM_000059.4(BRCA2):c.1508del (p.Lys503fs)	BRCA2 (K503fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1012162	NM_000059.4(BRCA2):c.1561del (p.Ser521fs)	BRCA2 (S521fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1703207	NM_000059.4(BRCA2):c.2312del (p.Ile770_Leu771insTer)	BRCA2	Deletion (nonsense)	Colorectal cancer	GPathogenic
Select item 266706	NM_000059.4(BRCA2):c.2514del (p.Lys838fs)	BRCA2 (K838fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1012166	NM_000059.4(BRCA2):c.2588del (p.Asn863fs)	BRCA2 (N863fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1696797	NM_000059.4(BRCA2):c.2617del (p.Lys872_Ile873insTer)	BRCA2	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696798	NM_000059.4(BRCA2):c.2893del (p.Lys964_Met965insTer)	BRCA2	Deletion (nonsense)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 1703208	NM_000059.4(BRCA2):c.3440del (p.Asn1147fs)	BRCA2 (N1147fs)	Deletion (frameshift variant)	Polyposis syndrome, hereditary mixed, 1	GLikely pathogenic
Select item 1696799	NM_000059.4(BRCA2):c.3648del (p.Phe1216fs)	BRCA2 (F1216fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696800	NM_000059.4(BRCA2):c.3708del (p.Ala1237fs)	BRCA2 (A1237fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1703199	NM_000059.4(BRCA2):c.3935del (p.Asn1312fs)	BRCA2 (N1312fs)	Deletion (frameshift variant)	Polyposis syndrome, hereditary mixed, 1	GLikely pathogenic
Select item 1696801	NM_000059.4(BRCA2):c.3956del (p.Asn1319fs)	BRCA2 (N1319fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1696802	NM_000059.4(BRCA2):c.4031del (p.Asn1344fs)	BRCA2 (N1344fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 560356	NM_000059.4(BRCA2):c.4284del (p.Gln1429fs)	BRCA2 (Q1429fs)	Deletion (frameshift variant)	Ovarian neoplasm +1 more	GPathogenic
Select item 1703200	NM_000059.4(BRCA2):c.4468del (p.Ile1490fs)	BRCA2 (I1490fs)	Deletion (frameshift variant)	Polyposis syndrome, hereditary mixed, 1	GLikely pathogenic
Select item 1696803	NM_000059.4(BRCA2):c.4904del (p.Phe1634_Leu1635insTer)	BRCA2	Deletion (nonsense)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1696805	NM_000059.4(BRCA2):c.4948del (p.Ser1650fs)	BRCA2 (S1650fs)	Deletion (frameshift variant)	Gastric cancer +1 more	GPathogenic
Select item 1703201	NM_000059.4(BRCA2):c.4997del (p.Asn1666fs)	BRCA2 (N1666fs)	Deletion (frameshift variant)	Polyposis syndrome, hereditary mixed, 1	GLikely pathogenic
Select item 1696806	NM_000059.4(BRCA2):c.5153del (p.Asn1718fs)	BRCA2 (N1718fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1012161	NM_000059.4(BRCA2):c.5297del (p.Asn1766fs)	BRCA2 (N1766fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1012160	NM_000059.4(BRCA2):c.5362del (p.Ser1788fs)	BRCA2 (S1788fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1012159	NM_000059.4(BRCA2):c.5566_5567inv (p.His1856Cys)	BRCA2 (H1856C)	Inversion (missense variant)	Familial cancer of breast	GPathogenic
Select item 1012158	NM_000059.4(BRCA2):c.5934del (p.Phe1978fs)	BRCA2 (F1978fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1696807	NM_000059.4(BRCA2):c.6791del (p.Leu2264fs)	BRCA2 (L2264fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1012167	NM_000059.4(BRCA2):c.7177del (p.Lys2392_Met2393insTer)	BRCA2	Deletion (nonsense)	Familial cancer of breast	GPathogenic
Select item 1696808	NM_000059.4(BRCA2):c.7340del (p.Asn2447fs)	BRCA2 (N2447fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1696809	NM_000059.4(BRCA2):c.7534del (p.Ala2513fs)	BRCA2 (A2513fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696810	NM_000059.4(BRCA2):c.7654del (p.Ile2552fs)	BRCA2 (I2552fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 967215	NM_000059.4(BRCA2):c.7667del (p.Asn2556fs)	BRCA2 (N2556fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1703202	NM_000059.4(BRCA2):c.7704del (p.Phe2568fs)	BRCA2 (F2568fs)	Deletion (frameshift variant)	Colorectal cancer	GLikely pathogenic
Select item 1012157	NM_000059.4(BRCA2):c.9163del (p.Leu3055fs)	BRCA2 (L3055fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1696811	NM_000059.4(BRCA2):c.9491del (p.Asn3164fs)	BRCA2 (N3164fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1703203	NM_000059.4(BRCA2):c.9799_9800del (p.Lys3267fs)	BRCA2 (K3267fs)	Deletion (frameshift variant)	Polyposis syndrome, hereditary mixed, 1	GLikely pathogenic
Select item 998132	NM_000059.4(BRCA2):c.9800del (p.Lys3267fs)	BRCA2 (K3267fs)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 1703204	NM_000059.4(BRCA2):c.9981del (p.Lys3327fs)	BRCA2 (K3327fs)	Deletion (frameshift variant)	Polyposis syndrome, hereditary mixed, 1	GLikely pathogenic
Select item 1696812	NM_000059.4(BRCA2):c.10220del (p.Asn3407fs)	BRCA2 (N3407fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1012168	NM_000059.4(BRCA2):c.10248del (p.Lys3416fs)	BRCA2 (K3416fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic

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Items: 45