ClinVar Genomic variation as it relates to human health
NM_000612.6(IGF2):c.106G>T (p.Glu36Ter)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
IGF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 182 | |
INS-IGF2 | - | - | - |
GRCh38 GRCh37 |
- | 320 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Dec 21, 2022 | RCV003156171.1 |
Pathogenic (1) |
|
Feb 11, 2023 | RCV003689044.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024