ClinVar Genomic variation as it relates to human health
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(2); Uncertain significance(1)
Likely pathogenic(2); Uncertain significance(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 | |||
FANCA | - | - |
GRCh38 GRCh37 |
4067 | 5186 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Mar 25, 2024 | RCV002306708.3 | |
Likely pathogenic (1) |
|
Mar 4, 2023 | RCV003395454.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024