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rs386833395

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6 185delAG BRCA1 mutation genotype
(-;AG) 6 BRCA1 (breast cancer) 185delAG carrier
(AG;AG) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position43124028
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs386833395
dbSNP (classic)rs386833395
ClinGenrs386833395
ebirs386833395
HLIrs386833395
Exacrs386833395
Gnomadrs386833395
Varsomers386833395
LitVarrs386833395
Maprs386833395
PheGenIrs386833395
Biobankrs386833395
1000 genomesrs386833395
hgdprs386833395
ensemblrs386833395
geneviewrs386833395
scholarrs386833395
googlers386833395
pharmgkbrs386833395
gwascentralrs386833395
openSNPrs386833395
23andMers386833395
23andMe allrs386833395
SNPshotrs386833395
SNPdbers386833395
MSV3drs386833395
GWAS Ctlgrs386833395
Merged fromRs796856605
Max Magnitude6

rs386833395, 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 in most populations; 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.

Formerly (being being merged into rs386833395) this SNP was also known as rs796856605.

This 185delAG mutation is considered a founder mutation among Ashkenazi Jews.

rs386833395 as well as rs796856605 are referred to as i4000377 by 23andMe.


ClinVar
Risk Rs386833395(-;-)
Alt Rs386833395(-;-)
Reference Rs386833395(AG;AG)
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 1
HGVS NC_000017.10:g.41276047_41276048delCT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019230.18, RCV000019231.3, RCV000034761.9, RCV000056295.6, RCV000131394.4, RCV000213650.3,