Variants
Sign InSign Up

rs376017665

  • Conflicting interpretations of pathogenicity
  • Uncertain significance

Your Genotype

Sign In

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.

The p.E1805K variant (also known as c.5413G>A), located in coding exon 41 of the TSC2 gene, results from a G to A substitution at nucleotide position 5413. The glutamic acid at codon 1805 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

Reference Allele

G


Alternative Allele

A

C

T

Chromosome

16


Location

2088599


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)


Allele

A


Clinical Significance

Conflicting interpretations of pathogenicity

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.