Variants
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rs199832657

  • Benign/Likely benign

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Description

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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

Reference Allele

C


Alternative Allele

T

Chromosome

9


Location

110800664


Variant Type

SNP

Genes

ClinVar

Name

NM_005592.4(MUSK):c.2286C>T (p.Asp762=)


Allele

T


Clinical Significance

Benign/Likely benign

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