rs80359507

plus

Geno	Mag	Summary
(-;A)	6	BRCA2 variant considered pathogenic for breast cancer
(-;AA)	6	BRCA2 variant considered pathogenic for breast cancer
(AA;AA)	0	common in clinvar

Make rs80359507(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339705

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359507
dbSNP (classic)	rs80359507
ClinGen	rs80359507
ebi	rs80359507
HLI	rs80359507
Exac	rs80359507
Gnomad	rs80359507
Varsome	rs80359507
LitVar	rs80359507
Map	rs80359507
PheGenI	rs80359507
Biobank	rs80359507
1000 genomes	rs80359507
hgdp	rs80359507
ensembl	rs80359507
geneview	rs80359507
scholar	rs80359507
google	rs80359507
pharmgkb	rs80359507
gwascentral	rs80359507
openSNP	rs80359507
23andMe	rs80359507
SNPshot	rs80359507
SNPdbe	rs80359507
MSV3d	rs80359507
GWAS Ctlg	rs80359507

Max Magnitude

6

rs80359507, also known as 5578delAA, c.5350_5351delAA and p.Asn1784Hisfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

Note the many different mutations all now lumped by dbSNP under a single rsID; at a minimum, these include delAAA, delAA, delA, dupA and dupAA. Of these 5, all are considered pathogenic except for the first, delAAA, which is of uncertain significance.

23andMe name for c.5351delA: i5009103

ClinVar
Risk	rs80359507(-;-)
Alt	rs80359507(-;-)
Reference	Rs80359507(AA;AA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32913842_32913843delAA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031540.9, RCV000044639.5, RCV000074537.8, RCV000131110.3,