rs864622628
- Uncertain significance
- Uncertain significance
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change replaces alanine with proline at codon 977 of the BRIP1 protein (p.Ala977Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Reference Allele
C
Alternative Allele
A
G
T
Chromosome
17
Location
61684117
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.2929G>C (p.Ala977Pro)
Allele
G
Clinical Significance
Uncertain significance
Name
NM_032043.3(BRIP1):c.2929G>T (p.Ala977Ser)
Allele
A
Clinical Significance
Uncertain significance
Name
NM_032043.3(BRIP1):c.2929G>A (p.Ala977Thr)
Allele
T
Clinical Significance
Uncertain significance