rs1603275707
- Pathogenic
Your Genotype
Sign InDescription
The p.E975* pathogenic mutation (also known as c.2923G>T), located in coding exon 19 of the BRIP1 gene, results from a G to T substitution at nucleotide position 2923. This changes the amino acid from a glutamic acid to a stop codon within coding exon 19. Premature stop codons are typically deleterious in nature, however, this deletion occurs at the 3' terminus of BRIP1, is not expected to trigger nonsense mediated decay (NMD), and results in the removal of the last 275 amino acids of the protein. This deletion removes a significant portion of the highly conserved BRCA1 interaction domain necessary for proper protein function (Shiozaki EN et al. Mol. Cell, 2004 May;14:405-12). As such, this alteration is interpreted as a disease-causing mutation.
Reference Allele
C
Alternative Allele
A
Chromosome
17
Location
61684123
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_032043.3(BRIP1):c.2923G>T (p.Glu975Ter)
Allele
A
Clinical Significance
Pathogenic