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rs796856605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CT) 8 BRCA1 (breast cancer) 185delAG carrier
(CT;CT) 0 common/normal


Make rs796856605(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43124030
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs796856605
ebirs796856605
HLIrs796856605
Exacrs796856605
Varsomers796856605
Maprs796856605
PheGenIrs796856605
hapmaprs796856605
1000 genomesrs796856605
hgdprs796856605
ensemblrs796856605
gopubmedrs796856605
geneviewrs796856605
scholarrs796856605
googlers796856605
pharmgkbrs796856605
gwascentralrs796856605
openSNPrs796856605
23andMers796856605
23andMe allrs796856605
SNP Nexus

SNPshotrs796856605
SNPdbers796856605
MSV3drs796856605
GWAS Ctlgrs796856605
Max Magnitude8
rs796856605, also known as 185delAG, 187delAG, c.66_67delAG, c.68_69delAG and p.Leu22_Glu23LeuValfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar and all major BRCA databases. See below for another rs-identifier denoting this mutation.

This mutation is well known but actually quite rare; for example, out of 120,000 alleles counted (from ~60,000 people) by ExAC, it was seen only about 30 times (i.e. it was present in one copy in about 30 of those 60,000 people), leading to an allele frequency of 0.00024, or, to put it another way, to being present in only about 1 out of every 2,000 people. [note: in ExAC, this mutation is correctly listed as occurring at GRCh37 position 17:41276044 as an ACT/A variant; however, the rs-id/SNP designation is incorrect in ExAC.]

Because of a natural dinucleotide repeat right where this mutation occurs, rs796856605 represents the same deletion of two bases, and therefore the same mutation, as rs386833395.

rs796856605 as well as rs386833395 are referred to as i4000377 by 23andMe. Another name that appears to be used by 23andMe for this mutation is i5009999, however, 23andMe is currently not choosing to publicly confirm or deny this.

ClinVar
Risk rs796856605(;)
Alt rs796856605(;)
Reference rs796856605(CT;CT)
Significance Other
Disease Breast-ovarian cancer Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene NBR2 BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000017.10:g.41276047_41276048delCT
CLNSRC Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC RCV000019230.16, RCV000019231.3, RCV000034761.7, RCV000056295.6, RCV000131394.3, RCV000213650.1,