ClinVar Genomic variation as it relates to human health
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
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 | |||
GAA | - | - |
GRCh38 GRCh38 GRCh37 |
2757 | 2807 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 24, 2022 | RCV001815635.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2023
After integration of the retrotransposon in intron 15 of the GAA gene, three non-reference sequences are present at the integration site: 1) 15 bp target site duplication, 2) the sequence transposed from chr20:2823027_2826302 and 3) a PolyA tail added during transposition. Using transcript-specific qPCR and 3`RACE we demonstrated that the retrotransposon insertion causes exonisation and premature transcription termination in vast majority of the corresponding mRNA molecules.