ClinVar Genomic variation as it relates to human health
NM_001001671.4(MAP3K15):c.3808G>T (p.Asp1270Tyr)
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 | |||
PDHA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
566 | 786 | |
MAP3K15 | - | - |
GRCh38 GRCh37 |
131 | 351 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 28, 2024 | RCV004416293.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024