List of variants in gene BRCA2 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)	rs4987117	0.01834
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)	rs4986860	0.00984
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	rs11571707	0.00868
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)	rs11571769	0.00809
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	rs36060526	0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)	rs45574331	0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)	rs11571831	0.00792
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)	rs28897727	0.00609
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	rs11571833	0.00597
NM_000059.4(BRCA2):c.7008-62A>G	rs76584943	0.00439
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)	rs55953736	0.00396
NM_000059.4(BRCA2):c.68-7T>A	rs81002830	0.00277
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)	rs55977008	0.00203
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	rs114446594	0.00191
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)	rs55969723	0.00168
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)	rs80358600	0.00146
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)	rs55933907	0.00106
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)	rs28897712	0.00054
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)	rs56272235	0.00026
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)	rs56087561	0.00023
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)	rs28897722	0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)	rs80358916	0.00003
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)	rs80358636	0.00002
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)	rs80359097	0.00001
NM_000059.4(BRCA2):c.9319A>G (p.Ile3107Val)	rs879255336	0.00001
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)	rs80358852
NM_000059.4(BRCA2):c.6888A>G (p.Ile2296Met)	rs879255335
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=)	rs28897754

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