rs760413281
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
TSC2 NM_000548.4 exon 41 p.Arg1745Cys (c.5233C>T): This variant has not been reported in the literature and is present in 0.01% (2/18860) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/16-2138300-C-T). This variant is present in ClinVar (Variation ID:405943). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
The p.R1745C variant (also known as c.5233C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5233. The arginine at codon 1745 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Reference Allele
C
Alternative Allele
T
Chromosome
16
Location
2088299
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity