rs376017665
- Conflicting interpretations of pathogenicity
- Uncertain significance
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 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
ClinVar
Name
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity
Name
NM_000548.5(TSC2):c.5413G>C (p.Glu1805Gln)
Allele
C
Clinical Significance
Uncertain significance