rs376907937
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
p.Ser251Ser in exon 4 of SOX10: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. This variant has been identified in 0.1% (13 /10124) of Ashkenazi Jewish chromosomes and 0.3% (59/18832) of East Asian chromo somes by the Genome Aggregation Database (gnomAD, http://gnomAD.broadinstitute.o rg; dbSNP rs376907937).
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Reference Allele
C
Alternative Allele
A
G
T
Chromosome
22
Location
37974143
Variant Type
SNP
ClinVar
Name
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity