Have questions? Visit https://www.reddit.com/r/SNPedia

rs4986764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4986764(C;C)
Make rs4986764(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position61685986
GeneBRIP1
is asnp
is mentioned by
dbSNPrs4986764
ebirs4986764
HLIrs4986764
Exacrs4986764
Varsomers4986764
Maprs4986764
PheGenIrs4986764
hapmaprs4986764
1000 genomesrs4986764
hgdprs4986764
ensemblrs4986764
gopubmedrs4986764
geneviewrs4986764
scholarrs4986764
googlers4986764
pharmgkbrs4986764
gwascentralrs4986764
openSNPrs4986764
23andMers4986764
23andMe allrs4986764
SNP Nexus

SNPshotrs4986764
SNPdbers4986764
MSV3drs4986764
GWAS Ctlgrs4986764
GMAF0.3269
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene BRIP1
allele G
frequency 0.45
sift
HuRef 1103645357729
Disease Association Defects in BRIP1 are a cause of Fanconi anemia (FA) (MIM:227650). FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopaenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.



[PMID 15113441OA-icon.png] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

[PMID 19127258OA-icon.png] A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.

[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


GET Evidence
BRIP1-S919P
aa_change Ser919Pro
aa_change_short S919P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.611917
summary



[PMID 23473757] BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer


[PMID 24301948] Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility


ClinVar
Risk rs4986764(C;C)
Alt rs4986764(C;C)
Reference rs4986764(T;T)
Significance Non-pathogenic
Disease not specified Hereditary cancer-predisposing syndrome
Variation info
Gene BRIP1
CLNDBN not specified Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.59763347A>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000120400.1, RCV000132148.2,