VPS13B Y413X - GET-Evidence

Curation:
Currentness:

VPS13B Y413X

(VPS13B Tyr413Stop)


Short summary

This common allele is found in the VPS13B gene, a.k.a. COH1. There are several splice variants for this gene, and the majority (which form full length proteins) treat this region as intronic. The splice variant terminates very closely downstream to this variant in the reference genome — the variant product is only three amino acids shorter. We conclude this variant is a benign polymorphism.

Variant evidence
Computational -
Functional -
Case/Control 1

High allele frequency supports no strongly pathogenic effect

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

There are several transcripts associated with this gene, only the highly shortened splice form includes this site in an exon. In this splice variant, the reference sequence’s termination codon is only three codons downstream of this variant — i.e. this variant only results in the loss of the terminal three amino acids in that splice variant’s protein product.

Allele frequency

  • None available.

Publications
 

Genomes
 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom G @ chr8:100202882

 

Other external references
 

    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in