rs1555572936
- Uncertain significance
Your Genotype
Sign InDescription
The p.P991S variant (also known as c.2971C>T), located in coding exon 19 of the BRIP1 gene, results from a C to T substitution at nucleotide position 2971. The proline at codon 991 is replaced by serine, an amino acid with similar 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
Chromosome
17
Location
61684075
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_032043.3(BRIP1):c.2971C>T (p.Pro991Ser)
Allele
A
Clinical Significance
Uncertain significance