ClinVar Genomic variation as it relates to human health
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
Germline
Classification
(6)
Conflicting classifications of pathogenicity
Uncertain significance(2); Likely benign(4)
Uncertain significance(2); Likely benign(4)
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 | |||
APOB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3270 | 3455 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
Mar 1, 2016 | RCV000239338.11 | |
Likely benign (1) |
|
Dec 23, 2020 | RCV001800615.9 | |
Likely benign (1) |
|
Jan 25, 2024 | RCV001837788.14 | |
Likely benign (1) |
|
Oct 30, 2022 | RCV002379068.8 | |
Likely benign (1) |
|
Mar 11, 2022 | RCV003977705.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024