rs1555572778

Conflicting interpretations of pathogenicity

Your Genotype

Description

This sequence change affects codon 1069 of the BRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRIP1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 461142). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Synonymous alterations with insufficient evidence to classify as benign

Reference Allele

Alternative Allele

Chromosome

Location

61683839

Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_032043.3(BRIP1):c.3207A>G (p.Gln1069=)

Allele

Clinical Significance

Conflicting interpretations of pathogenicity