rs766686613
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change falls in intron 31 of the PNPLA6 gene. It does not directly change the encoded amino acid sequence of the PNPLA6 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PNPLA6-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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
C
Alternative Allele
G
T
Chromosome
19
Location
7560645
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001166114.2(PNPLA6):c.3700-3C>T
Allele
T
Clinical Significance
Uncertain significance