rs188258913
- Benign/Likely benign
Your Genotype
Sign InDescription
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Reference Allele
A
Alternative Allele
G
Chromosome
17
Location
61684004
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
Allele
G
Clinical Significance
Benign/Likely benign