ClinVar Genomic variation as it relates to human health
NM_000135.2(FANCA):c.1007_3066del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |
LOC130059837 | - | - | - | GRCh38 | - | 135 |
LOC130059838 | - | - | - | GRCh38 | - | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 8, 2001 | RCV000003614.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
Deletion of exons 12-31 from FANCA is caused by genomic deletion originating in the flanking intronic regions.
NCBI staff reviewed the sequence information reported in PubMed 11344308 to determine the location of this allele on the current reference sequence.
44-kb genomic deletion of exons 12-31 plus flanking intronic sequences from FANCA.