Variants

Pompe disease GAA variant database

Variants

Link to Pubmed

Location

exon 14

DNA nomenclature

c.1927G>A

RNA nomenclature

r.[1927g>a, 1755_1928del, 1889_1928del]

Protein nomenclature

p.[Gly643Arg, Leu587_Ala644del, Glu630Gly*53]

Type of variant DNA

Substitution

Type of variant RNA

Substitution/ Splicing (exon variant)

Type of variant Protein

Substitution (missense)

ACMG classification

Pathogenic

Predicted severity

Potentially less severe

Phenotype with null allele

Classic infantile

CRIM status

Unknown

MAF

MAF is less than 1%

RS number

rs28937909

Biochemical evidence of pathogenicity

causes partial skipping of exon 14

Splicing and translation prediction

new cryptic splice acceptor

Prediction of CRIM status

unknown

Missense prediction (Mutation Taster)

Disease causing (p-value: 1)

Missense prediction (SIFT)

Deleterious (score: 0)

Missense prediction (Align GVGD)

Class C65 (GV: 0.00 - GD: 125.13)

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