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NM_000049.4(ASPA):c.32del (p.Ile11fs) AND Canavan Disease, Familial Form

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 23, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002265655.8

Allele description [Variation Report for NM_000049.4(ASPA):c.32del (p.Ile11fs)]

NM_000049.4(ASPA):c.32del (p.Ile11fs)

Genes:
ASPA:aspartoacylase [Gene - OMIM - HGNC]
SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_000049.4(ASPA):c.32del (p.Ile11fs)
HGVS:
  • NC_000017.11:g.3476191del
  • NG_008399.2:g.7546del
  • NG_008399.3:g.7083del
  • NM_000049.4:c.32delMANE SELECT
  • NM_001128085.1:c.32del
  • NM_001321336.2:c.-73-6793del
  • NM_001321337.2:c.-73-6793del
  • NP_000040.1:p.Ile11fs
  • NP_001121557.1:p.Ile11fs
  • NC_000017.10:g.3379485del
  • NM_000049.2:c.32delT
Protein change:
I11fs
Links:
OMIM: 608034.0007; dbSNP: rs767666474
NCBI 1000 Genomes Browser:
rs767666474
Molecular consequence:
  • NM_000049.4:c.32del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128085.1:c.32del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321336.2:c.-73-6793del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321337.2:c.-73-6793del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Canavan Disease, Familial Form
Identifiers:
MedGen: C0751663

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002547999Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(May 23, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

Kaul R, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.

Am J Hum Genet. 1996 Jul;59(1):95-102.

PubMed [citation]
PMID:
8659549
PMCID:
PMC1915091

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.

Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14.

PubMed [citation]
PMID:
28101991
PMCID:
PMC5412892

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002547999.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: ASPA c.32delT (p.Ile11AsnfsX15) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251376 control chromosomes. c.32delT has been reported in the literature in individuals affected with Canavan Disease (example, Kaul_1996). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024