rs1603275633
- Uncertain significance
Your Genotype
Sign InDescription
The p.K998Q variant (also known as c.2992A>C), located in coding exon 19 of the BRIP1 gene, results from an A to C substitution at nucleotide position 2992. The lysine at codon 998 is replaced by glutamine, an amino acid with 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
T
Alternative Allele
G
Chromosome
17
Location
61684054
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_032043.3(BRIP1):c.2992A>C (p.Lys998Gln)
Allele
G
Clinical Significance
Uncertain significance