rs886041147
- Conflicting interpretations of pathogenicity
- Likely benign
Your Genotype
Sign InDescription
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Synonymous alterations with insufficient evidence to classify as benign
Reference Allele
T
Alternative Allele
A
C
Chromosome
17
Location
61685867
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.2874A>T (p.Leu958=)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity
Name
NM_032043.3(BRIP1):c.2874A>G (p.Leu958=)
Allele
C
Clinical Significance
Likely benign