C2675520[trait identifier] AND "Foulkes Cancer Genetics LDI, Lady Davi - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37871	NM_000059.4(BRCA2):c.3G>T (p.Met1Ile)	BRCA2 (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
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 51409	NM_000059.4(BRCA2):c.316+5G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126116	NM_000059.4(BRCA2):c.475+3A>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52058	NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)	BRCA2 (V211I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	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 38079	NM_000059.4(BRCA2):c.700del (p.Ser234fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 184021	NM_000059.4(BRCA2):c.708T>C (p.His236=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52869	NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)	BRCA2 (N319S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 38248	NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	BRCA2 (N319T)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition +6 more	GConflicting classifications of pathogenicity
Select item 41541	NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	BRCA2 (S384F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51090	NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)	BRCA2 (H415R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 51139	NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	BRCA2 (E510*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37768	NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)	BRCA2 (T630I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37770	NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)	BRCA2 (P655R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51246	NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)	BRCA2 (S708T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GConflicting classifications of pathogenicity
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 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37806	NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)	BRCA2 (D970N)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition +12 more	GConflicting classifications of pathogenicity
Select item 51377	NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)	BRCA2 (N986S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 37826	NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 184180	NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37846	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41548	NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)	BRCA2 (G1194D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51545	NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51547	NM_000059.4(BRCA2):c.3863A>T (p.Asn1288Ile)	BRCA2 (N1288I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41549	NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)	BRCA2 (D1420Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51668	NM_000059.4(BRCA2):c.4547T>A (p.Ile1516Asn)	BRCA2 (I1516N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 51676	NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)	BRCA2 (F1524V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37915	NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37917	NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)	BRCA2 (T1557S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GBenign/Likely benign
Select item 188309	NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs)	BRCA2 (T1566fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 415670	NM_000059.4(BRCA2):c.4968A>G (p.Thr1656=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 37963	NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37975	NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)	BRCA2 (I1859fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37983	NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)	BRCA2 (N1878K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51896	NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)	BRCA2 (N1880K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51900	NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)	BRCA2 (Q1886*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51903	NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)	BRCA2 (K1888R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51912	NM_000059.4(BRCA2):c.5704G>A	BRCA2	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9320	NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	BRCA2 (L1908fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51952	NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	BRCA2 (E1953*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51954	NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)	BRCA2 (S1955*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38007	NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)	BRCA2 (S1970*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 184341	NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52007	NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38028	NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)	BRCA2 (H2074N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9318	NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41559	NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)	BRCA2 (R2108C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 252446	NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)	BRCA2 (S2156fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9319	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52145	NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 186392	NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)	BRCA2 (F2254Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 52180	NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter)	BRCA2 (C2256*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52199	NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)	BRCA2 (G2274V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +7 more	GConflicting classifications of pathogenicity
Select item 52222	NM_000059.4(BRCA2):c.6938-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52225	NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)	BRCA2 (R2318Q)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38077	NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	BRCA2 (R2336H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52239	NM_000059.4(BRCA2):c.7007+5G>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 52246	NM_000059.4(BRCA2):c.7008-2A>T	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91469	NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)	BRCA2 (R2341C)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition +6 more	GConflicting classifications of pathogenicity
Select item 52260	NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)	BRCA2 (G2353R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38086	NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)	BRCA2 (Q2384K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 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 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 52463	NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 183837	NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52500	NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu)	BRCA2 (S2695L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41564	NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)	BRCA2 (A2717S)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition	GBenignFDA Recognized database
Select item 38142	NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)	BRCA2 (K2729N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 91511	NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)	BRCA2 (P2796S)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 52606	NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)	BRCA2 (S2835P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9328	NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)	BRCA2 (E2846fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38168	NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)	BRCA2 (E2856A)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
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 38201	NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	BRCA2 (E3002K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 38203	NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly)	BRCA2 (R3007G)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 38207	NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)	BRCA2 (Q3026*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38208	NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	BRCA2 (T3033fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38211	NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)	BRCA2 (Y3035S)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 38221	NM_000059.4(BRCA2):c.9235del (p.Val3079fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52800	NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)	BRCA2 (Y3092C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 187011	NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)	BRCA2 (I3113T)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition +7 more	GUncertain significance
Select item 52826	NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	BRCA2 (R3128*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38242	NM_000059.4(BRCA2):c.9501+3A>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 531387	NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr)	BRCA2 (I3183T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 38251	NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)	BRCA2 (K3196E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 52875	NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)	BRCA2	Indel (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38262	NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)	BRCA2 (P3243L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 52919	NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)	BRCA2 (E3309*)	Single nucleotide variant (nonsense)	BRCA2-related cancer predisposition	GUncertain significanceFDA Recognized database
Select item 38266	NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	BRCA2 (K3326*)	Single nucleotide variant (nonsense)	BRCA2-related cancer predisposition	GBenignFDA Recognized database

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Items: 94