ClinVar Genomic variation as it relates to human health
NM_000251.1(MSH2):c.-4729_367-353del
Germline
Classification
(2)
Pathogenic
reviewed by expert panel
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 | |||
MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7200 | 7352 | |
LOC129933695 | - | - | - | GRCh38 | - | 60 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2003 | RCV000001840.2 | |
Pathogenic (1) |
|
Sep 5, 2013 | RCV000075987.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
11,279-nt genomic deletion spanning exons 1 through 2 plus flanking sequences in gene MSH2.