rs80357888

minus

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

Make rs80357888(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094023

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357888
dbSNP (classic)	rs80357888
ClinGen	rs80357888
ebi	rs80357888
HLI	rs80357888
Exac	rs80357888
Gnomad	rs80357888
Varsome	rs80357888
LitVar	rs80357888
Map	rs80357888
PheGenI	rs80357888
Biobank	rs80357888
1000 genomes	rs80357888
hgdp	rs80357888
ensembl	rs80357888
geneview	rs80357888
scholar	rs80357888
google	rs80357888
pharmgkb	rs80357888
gwascentral	rs80357888
openSNP	rs80357888
23andMe	rs80357888
SNPshot	rs80357888
SNPdbe	rs80357888
MSV3d	rs80357888
GWAS Ctlg	rs80357888

Max Magnitude

6

rs80357888, also known as 1623del5, c.1504_1508delTTAAA and p.Leu502_Lys503?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5009929

ClinVar
Risk	rs80357888(-;-)
Alt	rs80357888(-;-)
Reference	Rs80357888(TTAAA;TTAAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41246040_41246044delTTTAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030998.9, RCV000047499.6, RCV000131841.3, RCV000210987.2,