List of variants in gene BRCA2 reported as pathogenic by Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 44

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HGVS	dbSNP	gnomAD frequency
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)	rs11571657	0.00288
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	rs80359212	0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	rs11571658	0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)	rs397507422	0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	rs80358785	0.00002
NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs)	rs786204209	0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	rs80358814	0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)	rs80358815	0.00001
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)	rs80359003	0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.3(BRCA2):c.9118-?_9256+?del
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	rs80358438
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)	rs80359328
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)	rs80358561
NM_000059.4(BRCA2):c.316+5G>A	rs81002840
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)	rs80359373
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	rs80359388
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)	rs80359406
NM_000059.4(BRCA2):c.4104del (p.Leu1368fs)	rs1566229677
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)	rs80359462
NM_000059.4(BRCA2):c.527_530del (p.Thr176fs)	rs1566219179
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)	rs80359512
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)	rs80359520
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)	rs80358790
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	rs80359530
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)	rs80358824
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)	rs80359558
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)	rs80358871
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)	rs80359596
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	rs80359605
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)	rs80359614
NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter)	rs80358901
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	rs28897743
NM_000059.4(BRCA2):c.7008-2A>T	rs81002823
NM_000059.4(BRCA2):c.700del (p.Ser234fs)	rs80359630
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)	rs397507907
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)	rs80359031
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)	rs80359714
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)	rs80359730
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	rs80359152
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)	rs80359159
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	rs397507419

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