rs80357711

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	Normal

Make rs80357711(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091496

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357711
dbSNP (classic)	rs80357711
ClinGen	rs80357711
ebi	rs80357711
HLI	rs80357711
Exac	rs80357711
Gnomad	rs80357711
Varsome	rs80357711
LitVar	rs80357711
Map	rs80357711
PheGenI	rs80357711
Biobank	rs80357711
1000 genomes	rs80357711
hgdp	rs80357711
ensembl	rs80357711
geneview	rs80357711
scholar	rs80357711
google	rs80357711
pharmgkb	rs80357711
gwascentral	rs80357711
openSNP	rs80357711
23andMe	rs80357711
SNPshot	rs80357711
SNPdbe	rs80357711
MSV3d	rs80357711
GWAS Ctlg	rs80357711

Max Magnitude

6

rs80357711, also known as 4154delA, 4035delA, 4135delA, c.4035_4035delA and p.Glu1345=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. It is considered to be a founder mutation in Russia and nearby Baltic countries (Poland, Latvia).

This mutation appears to be renamed i4000459 by 23andMe.

ClinVar
Risk	rs80357711(-;-)
Alt	rs80357711(-;-)
Reference	Rs80357711(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41243513delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031141.9, RCV000048413.6, RCV000074587.7, RCV000130638.3, RCV000239274.1,