rs1555572884
- Uncertain significance
Your Genotype
Sign InDescription
The p.A1019V variant (also known as c.3056C>T), located in coding exon 19 of the BRIP1 gene, results from a C to T substitution at nucleotide position 3056. The alanine at codon 1019 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly conserved however, valine is a reference amino acid in several 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
G
Alternative Allele
A
Chromosome
17
Location
61683990
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3056C>T (p.Ala1019Val)
Allele
A
Clinical Significance
Uncertain significance