rs1555572929
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 995 of the BRIP1 protein (p.Lys995Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489828). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Reference Allele
T
Alternative Allele
C
Chromosome
17
Location
61684063
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.2983A>G (p.Lys995Glu)
Allele
C
Clinical Significance
Uncertain significance