rs1014559233
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change replaces cysteine with tyrosine at codon 325 of the SAMD11 protein (p.Cys325Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with SAMD11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Reference Allele
G
Alternative Allele
A
Chromosome
1
Location
942240
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001385641.1(SAMD11):c.1463G>A (p.Cys488Tyr)
Allele
A
Clinical Significance
Uncertain significance