rs1603275438
- Uncertain significance
- Likely pathogenic
Your Genotype
Sign InDescription
The p.S1056L variant (also known as c.3167C>T), located in coding exon 19 of the BRIP1 gene, results from a C to T substitution at nucleotide position 3167. The serine at codon 1056 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is 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
G
Alternative Allele
A
C
Chromosome
17
Location
61683879
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3167C>T (p.Ser1056Leu)
Allele
A
Clinical Significance
Uncertain significance
Name
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)
Allele
C
Clinical Significance
Likely pathogenic