rs147334218
- Benign/Likely benign
Your Genotype
Sign InDescription
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.
p.Gly274Gly 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. It has been identified in 0.17% (211/124588) of European chromosomes and 0.21% (73/34420) of Latino chromosomes by the Genom e Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs147334 218). ACMG/AMP Criteria applied: BP4, BP7, BS1_P (Richards 2015).
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 is associated with the following publications: (PMID: 20444197, 20130826, 11499640)
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37974074
Variant Type
SNP
ClinVar
Name
NM_006941.4(SOX10):c.822C>T (p.Gly274=)
Allele
A
Clinical Significance
Benign/Likely benign