rs80357713

minus

Geno	Mag	Summary
(-;-)	0	common/normal
(-;AG)	3	rare BRCA1 variant, of unclear pathogenicity

Make rs80357713(AG;AG)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43124030

Gene	BRCA1, NBR2

is a	snp
is	mentioned by
dbSNP	rs80357713
dbSNP (classic)	rs80357713
ClinGen	rs80357713
ebi	rs80357713
HLI	rs80357713
Exac	rs80357713
Gnomad	rs80357713
Varsome	rs80357713
LitVar	rs80357713
Map	rs80357713
PheGenI	rs80357713
Biobank	rs80357713
1000 genomes	rs80357713
hgdp	rs80357713
ensembl	rs80357713
geneview	rs80357713
scholar	rs80357713
google	rs80357713
pharmgkb	rs80357713
gwascentral	rs80357713
openSNP	rs80357713
23andMe	rs80357713
SNPshot	rs80357713
SNPdbe	rs80357713
MSV3d	rs80357713
GWAS Ctlg	rs80357713

Status

Merged into rs80357783

Max Magnitude

3

rs80357713, also known as c.66_67insAG, represents a 2 nucleotide insertion variant in between GRCh37 position 17:41276047-8.

Technically, at the sequence level this changes GGACACTCTAA to GGACACCctTAA, where the lower case "ct" indicates the variant insertion.

The pathogenicity of this rare mutation is not reported in ClinVar and dbSNP.

In the BIC database, rs80357713 appears to be incorrectly reported as being the "185delAG" mutation, which is actually correctly represented as either rs386833395 or rs796856605.

ClinVar
Risk	rs80357713(AG;AG)
Alt	rs80357713(AG;AG)
Reference	rs80357713(AG;AG)
Significance	Other
Disease	Breast-ovarian cancer Pancreatic cancer 4 BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	NBR2 BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Pancreatic cancer 4 BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.11:g.43124030_43124031delCT
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019230.10, RCV000019231.1, RCV000034761.3, RCV000056295.6, RCV000131394.2,