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rs552606315

  • Conflicting interpretations of pathogenicity

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Description

A variant that is likely pathogenic has been identified in the PLA2G6 gene. The c.2277-2A>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 16. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Furthermore, the c.2277-2A>C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

Reference Allele

T


Alternative Allele

G

Chromosome

22


Location

38112307


Variant Type

SNP

Genes

ClinVar

Name

NM_003560.4(PLA2G6):c.2277-2A>C


Allele

G


Clinical Significance

Conflicting interpretations of pathogenicity

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