rs1555572824
- Uncertain significance
- Uncertain significance
Your Genotype
Sign InDescription
The p.V1046I variant (also known as c.3136G>A), located in coding exon 19 of the BRIP1 gene, results from a G to A substitution at nucleotide position 3136. The valine at codon 1046 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Reference Allele
C
Alternative Allele
G
T
Chromosome
17
Location
61683910
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3136G>A (p.Val1046Ile)
Allele
T
Clinical Significance
Uncertain significance
Name
NM_032043.3(BRIP1):c.3136G>C (p.Val1046Leu)
Allele
G
Clinical Significance
Uncertain significance