ClinVar Genomic variation as it relates to human health
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
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 | |||
ABCA1 | - | - |
GRCh38 GRCh37 |
1131 | 1442 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 18, 2023 | RCV002976388.2 | |
Likely benign (1) |
|
Jun 19, 2023 | RCV003317635.1 | |
Uncertain significance (1) |
|
Oct 26, 2022 | RCV003336787.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024