Variants

Pompe disease GAA variant database

Variants

Link to Pubmed

Location

intron 17

DNA nomenclature

c.2481+2T>C

RNA nomenclature

r.[2331_2332ins2332-109_2332-1; 2462_2481del, 2462_2481del, 2332_2481del]

Protein nomenclature

p.[Val778AlaSerTer, Tyr822Profs*55, Val778_Gln827del]

Type of variant DNA

Substitution

Type of variant RNA

Substitution/ Splicing (splice donor site)

Type of variant Protein

Frameshift

ACMG classification

Pathogenic

Predicted severity

Very severe

Phenotype with null allele

Unknown (disease-associated)

CRIM status

Unknown

MAF

MAF not reported

Biochemical evidence of pathogenicity

causes partial inclusion of intron 16 and partial skipping of exon 17

Splicing and translation prediction

loss of exon 17 splice donor

Prediction of CRIM status

unknown

The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854

www.pompecenter.nl