AMPD1 P48L - GET-Evidence



(AMPD1 Pro48Leu)

Short summary

Probably benign, ancestral to15173240 pathogenic Q12X mutation.

Variant evidence

See Q12X for pathogenic effect.

Functional -

See Q12X for pathogenic effect.

Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary

Although this variant has been reported as pathogenic (causing myoadenylate deaminase deficiency), it is always reported linked to Q12X (which is upstream) — P48L is almost certainly ancestral and is not rare (GET-Evidence data has 4.7% allele frequency).

Allele frequency

  • A @ chr1:115231254: 9.4% (1012/10758) in EVS
  • A @ chr1:115032776: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 9.4% (1012/10758)


Toyama K, Morisaki H, Kitamura Y, Gross M, Tamura T, Nakahori Y, Vance JM, Speer M, Kamatani N, Morisaki T. Haplotype analysis of human AMPD1 gene: origin of common mutant allele. J Med Genet. 2004 Jun;41(6):e74. Erratum in: J Med Genet. 2005 Mar;42(3):288. PubMed PMID: 15173240; PubMed Central PMCID: PMC1735804.

Reports on the paired Q12X and P48L variants.


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:115231254


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr1:115231254



huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:115231254


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr1:115231254


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr1:115231254


GS06985 - var-GS06985-1100-36-ASM
het A @ chr1:115032777


GS07357 - var-GS07357-1100-36-ASM
het A @ chr1:115032777


Other external references

  • rs61752479
  • Score: 0.999 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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