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rs886051798

  • Conflicting interpretations of pathogenicity

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Description

In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

Reference Allele

G


Alternative Allele

A

C

Chromosome

16


Location

2088487


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)


Allele

C


Clinical Significance

Conflicting interpretations of pathogenicity

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