rs863224803
- Uncertain significance
- Likely benign
Your Genotype
Sign InDescription
This sequence change affects codon 1013 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: 216796). 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.
Reference Allele
A
Alternative Allele
G
T
Chromosome
17
Location
61684007
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3039T>A (p.Thr1013=)
Allele
T
Clinical Significance
Uncertain significance
Name
NM_032043.3(BRIP1):c.3039T>C (p.Thr1013=)
Allele
G
Clinical Significance
Likely benign