ClinVar Genomic variation as it relates to human health
NM_017799.4(TMEM260):c.160+2159_344+1212del
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 | |||
TMEM260 | - | - |
GRCh38 GRCh37 |
84 | 113 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 5, 2021 | RCV001775196.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022
The genomic location of the deletion including exons 2 and 3 were reported in Table 1 of the paper by Pagnamenta et al., 2021 (PubMed 34612517).
The effect of the genomic deletion is the loss of exons 2 and 3 from the cDNA.