NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs) AND Aminoacylase 1 deficiency

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs)]

NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs)

ABHD14A-ACY1:ABHD14A-ACY1 readthrough [Gene - HGNC]
ACY1:aminoacylase 1 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs)
  • NC_000003.12:g.51988950AC[3]
  • NG_012036.1:g.10404AC[3]
  • NG_012036.1:g.10406_10407dup
  • NM_000666.3:c.1104_1105dupMANE SELECT
  • NM_001198895.2:c.1104_1105dup
  • NM_001198896.2:c.888_889dup
  • NM_001198897.2:c.909_910dup
  • NM_001198898.2:c.999_1000dup
  • NM_001316331.2:c.1374_1375dup
  • NP_000657.1:p.Pro369fs
  • NP_001185824.1:p.Pro369fs
  • NP_001185825.1:p.Pro297fs
  • NP_001185826.1:p.Pro304fs
  • NP_001185827.1:p.Pro334fs
  • NP_001303260.1:p.Pro459fs
  • NC_000003.11:g.52022966AC[3]
  • NG_012036.1:g.10406_10407dup
  • NM_000666.2:c.1104_1105dup
  • NP_000657.1:p.Pro369fs
Protein change:
OMIM: 104620.0001; dbSNP: rs387906579
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000666.3:c.1104_1105dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001198895.2:c.1104_1105dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001198896.2:c.888_889dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001198897.2:c.909_910dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001198898.2:c.999_1000dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316331.2:c.1374_1375dup - frameshift variant - [Sequence Ontology: SO:0001589]


Aminoacylase 1 deficiency
Deficiency of the aminoacylase-1 enzyme; ACY1 deficiency; Neurological conditions associated with aminoacylase 1 deficiency
MONDO: MONDO:0012368; MedGen: C1835922; Orphanet: 137754; OMIM: 609924

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000040035OMIMno assertion criteria providedPathogenic
(Mar 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only



Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H.

Am J Hum Genet. 2006 Mar;78(3):401-9. Epub 2006 Jan 18.

PubMed [citation]

Details of each submission

From OMIM, SCV000040035.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)


In the offspring of consanguineous Turkish parents, residing in Germany, Sass et al. (2006) detected aminoacylase-1 deficiency (ACY1D; 609924) by the presence of N-acetylamino acids in the urine in the course of selective screening for inborn errors of metabolism. The subject's development appeared to be normal. He attended high school. He started walking at age 1 year. At age 3 years, the parents first observed muscle weakness that prompted a thorough investigation at age 11 years. During that examination the boy presented with low normal muscle tone and a shambling gait. Extensive studies revealed no significant myopathologic abnormalities. Sass et al. (2006) identified a homozygous loss-of-function mutation in the ACY1 gene predicting aberrant translation, a 2-bp insertion, 1105_1106insAC. The 2-bp insertion predicted a frameshift beginning with amino acid residue 369 (369ProfsTer46). Notably, the mutation did not lead to premature termination of translation but predicted a C-terminal mutated protein longer than the wildtype protein (408 amino acid residues) and affected the C-terminal peptidase domain. Both parents were heterozygous carriers.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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