ClinVar Genomic variation as it relates to human health
NM_005378.6(MYCN):c.2T>C (p.Met1Thr)
Germline
Classification
(1)
Likely benign
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 | |||
MYCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
155 | 251 | |
MYCNOS | - | - |
GRCh38 GRCh37 |
- | 96 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
- | RCV001255751.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024