ClinVar Genomic variation as it relates to human health
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
Germline
Classification
(2)
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 | |||
MUTYH | - | - |
GRCh38 GRCh37 |
2566 | 2714 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Sep 1, 2011 | RCV000023394.16 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024
NCBI staff reviewed the sequence information reported in PubMed 21815886 Fig. 1d to determine the location of this allele on the current reference sequence.
Genomic deletion in MUTYH starting in intron 3 and extending to the 3'-UTR, replaced by an insertion of the dinucleotide TA.