ClinVar Genomic variation as it relates to human health
NM_003502.4(AXIN1):c.2503dup (p.Val835fs)
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
AXIN1 | - | - |
GRCh38 GRCh37 |
82 | 151 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 26, 2023 | RCV003388225.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024
The paper by Terhal et al., 2013 (PubMed 37582359) cites two RefSeq accessions for AXIN1, NM_003502.3 and NM_181050.3. NM_003502.3:c.2395dupG cannot be validated, because there is a C at that location. NM_181050.3:c.2395dupG is valid and is consistent with the reported affect on the protein, namely Val799Glyfs*4.