"Genologica Medica"[submitter] AND "BRCA2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 427238	NM_000059.4(BRCA2):c.293T>G (p.Leu98Ter)	BRCA2 (L98*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52438	NM_000059.4(BRCA2):c.793+1G>T	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 37737	NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)	BRCA2 (K437fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 185130	NM_000059.4(BRCA2):c.1308_1309del (p.Lys437fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266660	NM_000059.4(BRCA2):c.1792del (p.Thr598fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	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 51318	NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer)	BRCA2	Microsatellite (nonsense)	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 51504	NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 37867	NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)	BRCA2 (E1308*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51779	NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37951	NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51879	NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs)	BRCA2 (V1854fs)	Microsatellite (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 233291	NM_000059.4(BRCA2):c.5669_5673del (p.Met1890fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 254563	NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer)	BRCA2	Microsatellite (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38015	NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)	BRCA2 (Q2009fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 427240	NM_000059.4(BRCA2):c.6034del (p.Ser2012fs)	BRCA2 (S2012fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52032	NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 38048	NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)	BRCA2 (K2162fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 229950	NM_000059.4(BRCA2):c.6596del (p.Thr2199fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52131	NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 427241	NM_000059.4(BRCA2):c.6650_6654del (p.Lys2217fs)	BRCA2 (K2217fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 427242	NM_000059.4(BRCA2):c.6652del (p.Asp2218fs)	BRCA2 (D2218fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 52435	NM_000059.4(BRCA2):c.7926del (p.Phe2642fs)	BRCA2 (F2642fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182322	NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)	BRCA2 (W2725fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52721	NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs)	BRCA2 (L2996fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52728	NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter)	BRCA2 (Y3006*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38204	NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52763	NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)	BRCA2 (R3052W)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38226	NM_000059.4(BRCA2):c.9274del (p.Tyr3092fs)	BRCA2 (Y3092fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36