Table 6.

BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer: Notable Pathogenic Variants by Gene

GeneReference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein ChangeComment [Reference]
BRCA1 NM_007294​.4
NP_009225​.1 		c.68_69delAG
(185delAG or 187delAG)		p.Glu23ValfsTer17Founder variant in Ashkenazi Jews; accounts for 72% of pathogenic variants in this population 2
c.115T>Gp.Cys39GlyFounder variant in Inuit from Ammassalik; accounts for >95% of pathogenic variants in this population 3
c.815_824dupAGCCATGTGG
(943ins10)		p.Thr276AlafsTer14Founder variant in those of West African ancestry 4
c.5096G>Ap.Arg1699GlnIntermediate risk variant 5
c.5266dupC
(5385insC or 5382insC)		p.Gln1756ProfsTer74Founder variant in Ashkenazi Jews; accounts for 26% of pathogenic variants in this population 2
BRCA2 NM_000059​.4
NP_000050​.3 		c.771_775delTCAAA (999del5)p.Asn257LysfsTer17Founder variant in Icelanders 6
c.5073dupAp.Trp1692MetfsTer3Founder variant in Amish of Somerset County, Pennsylvania 7
c.5946delT
(6174delT)		p.Ser1982ArgfsTer22Founder variant in Ashkenazi Jews; accounts for 95% of pathogenic variants in this population 2

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

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3.
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5.
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7.

From: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer

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