rs61754142
- Benign/Likely benign
- Likely benign
Your Genotype
Sign InDescription
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.
Reference Allele
G
Alternative Allele
A
C
Chromosome
17
Location
61683977
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)
Allele
A
Clinical Significance
Benign/Likely benign
Name
NM_032043.3(BRIP1):c.3069C>G (p.Leu1023=)
Allele
C
Clinical Significance
Likely benign