rs80357508

minus

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

Make rs80357508(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091463

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357508
dbSNP (classic)	rs80357508
ClinGen	rs80357508
ebi	rs80357508
HLI	rs80357508
Exac	rs80357508
Gnomad	rs80357508
Varsome	rs80357508
LitVar	rs80357508
Map	rs80357508
PheGenI	rs80357508
Biobank	rs80357508
1000 genomes	rs80357508
hgdp	rs80357508
ensembl	rs80357508
geneview	rs80357508
scholar	rs80357508
google	rs80357508
pharmgkb	rs80357508
gwascentral	rs80357508
openSNP	rs80357508
23andMe	rs80357508
SNPshot	rs80357508
SNPdbe	rs80357508
MSV3d	rs80357508
GWAS Ctlg	rs80357508

Max Magnitude

6

rs80357508, also known as 4184del4, c.4065_4068delTCAA and p.Asn1355_Gln1356?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i4000453

ClinVar
Risk	rs80357508(-;-)
Alt	rs80357508(-;-)
Reference	Rs80357508(TCAA;TCAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41243480_41243483delTTGA
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019243.15, RCV000048431.7, RCV000131887.3, RCV000159924.3, RCV000238776.1, RCV000476410.1,