Variants
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rs766686613

  • Uncertain significance

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Description

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

ClinVar

Name

NM_001166114.2(PNPLA6):c.3700-3C>T


Allele

T


Clinical Significance

Uncertain significance

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