ClinVar Genomic variation as it relates to human health
NM_001372053.1(ANKRD31):c.4748G>A (p.Cys1583Tyr)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
ANKRD31 | - | - |
GRCh38 GRCh37 |
117 | 125 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ANKRD31-related disorder
|
Likely benign (1) |
|
Feb 25, 2023 | RCV003966302.1 |
Uncertain significance (1) |
|
Mar 28, 2023 | RCV004294935.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024