"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "BRCA2 - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37715	NM_000059.4(BRCA2):c.-39-12_-39-10del	BRCA2	Microsatellite (intron variant)	Hereditary breast ovarian cancer syndrome +5 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)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 51711	NM_000059.4(BRCA2):c.475G>A (p.Val159Met)	BRCA2 (V159M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GPathogenic/Likely pathogenic
Select item 1698918	NM_000059.4(BRCA2):c.632-44A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 52106	NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)	BRCA2 (E215del)	Microsatellite (inframe_deletion)	not specified +5 more	GUncertain significance
Select item 1698870	NM_000059.4(BRCA2):c.682-8T>A	BRCA2	Single nucleotide variant (intron variant)	Neoplasm of ovary	GUncertain significance
Select item 135814	NM_000059.4(BRCA2):c.750G>A (p.Val250=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 215626	NM_000059.4(BRCA2):c.909T>G (p.Ser303=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 818621	NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)	BRCA2 (Q407R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 51090	NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)	BRCA2 (H415R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 51109	NM_000059.4(BRCA2):c.1362del (p.Lys454fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1698823	NM_000059.4(BRCA2):c.1586_1587del (p.Asn528_Phe529insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37763	NM_000059.4(BRCA2):c.1813del (p.Ile605fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37769	NM_000059.4(BRCA2):c.1929del (p.Arg645fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91775	NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)	BRCA2 (D777fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 142918	NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)	BRCA2 (N830D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1698928	NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala)	BRCA2 (T855A)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 51349	NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)	BRCA2 (D935N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GBenign/Likely benign
Select item 1698868	NM_000059.4(BRCA2):c.2980del (p.Ala994fs)	BRCA2 (A994fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 51465	NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)	BRCA2 (M1149V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 133731	NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val)	BRCA2 (A1162V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 51481	NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 409456	NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn)	BRCA2 (D1199N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 462303	NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu)	BRCA2 (G1215E)	Single nucleotide variant (missense variant)	Neoplasm of ovary +3 more	GConflicting classifications of pathogenicity
Select item 491254	NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs)	BRCA2 (L1227fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 51504	NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51589	NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 531204	NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)	BRCA2 (S1385*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GPathogenic/Likely pathogenic
Select item 51642	NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs)	BRCA2 (I1470fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37904	NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 382488	NM_000059.4(BRCA2):c.4716C>G (p.Ala1572=)	BRCA2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 409591	NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys)	BRCA2 (R1694K)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 37957	NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37992	NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)	BRCA2 (C1913R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 462394	NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)	BRCA2 (T1980P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 140958	NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)	BRCA2 (P2096R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 52057	NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)	BRCA2 (L2106P)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 52156	NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala)	BRCA2 (V2228A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1698916	NM_000059.4(BRCA2):c.6750_6751insACACA (p.His2251fs)	BRCA2 (H2251fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 495493	NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 52219	NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn)	BRCA2 (T2310N)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 52248	NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)	BRCA2 (T2337I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 38082	NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52298	NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)	BRCA2 (H2417fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 231148	NM_000059.4(BRCA2):c.7435+5T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 96855	NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)	BRCA2 (Y2543C)	Single nucleotide variant (missense variant)	not specified +13 more	GUncertain significance
Select item 1698764	NM_000059.4(BRCA2):c.7648A>C (p.Ile2550Leu)	BRCA2 (I2550L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 52401	NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)	BRCA2 (W2586*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52405	NM_000059.4(BRCA2):c.7762del (p.Ile2588fs)	BRCA2 (I2588fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52462	NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)	BRCA2 (E2663V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52475	NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)	BRCA2 (I2675V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 38155	NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	BRCA2 (R2784W)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 52562	NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)	BRCA2 (R2787C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 52600	NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)	BRCA2 (Q2829*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38161	NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)	BRCA2 (Q2829R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 52603	NM_000059.4(BRCA2):c.8487+3A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GPathogenic/Likely pathogenic
Select item 38168	NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)	BRCA2 (E2856A)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 38169	NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41570	NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)	BRCA2 (A2951T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38192	NM_000059.4(BRCA2):c.8904del (p.Val2969fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38205	NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)	BRCA2 (T3013I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52780	NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)	BRCA2 (G3076E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 52817	NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)	BRCA2 (K3115R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 52856	NM_000059.4(BRCA2):c.9502-12T>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38266	NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	BRCA2 (K3326*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign FDA Recognized database
Select item 1131690	NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter)	BRCA2 (S3338*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 51038	NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)	BRCA2 (E3359G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity

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Items: 70