ClinVar Genomic variation as it relates to human health
NM_002755.4(MAP2K1):c.1053T>A (p.Asp351Glu)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
MAP2K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
513 | 604 | |
SNAPC5 | - | - |
GRCh38 GRCh37 |
10 | 91 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 18, 2023 | RCV003655874.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024