NM_000049.4(ASPA):c.20_205del (p.Ala7_Leu69delinsVal) AND Spongy degeneration of central nervous system

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 5, 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:: RCV003121468.7

Allele description

NM_000049.4(ASPA):c.20_205del (p.Ala7_Leu69delinsVal)

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.20_205del (p.Ala7_Leu69delinsVal)

HGVS:

NC_000017.11:g.3476179_3476364del
NG_008399.2:g.7534_7719del
NG_008399.3:g.7071_7256del
NM_000049.4:c.20_205delMANE SELECT
NM_001128085.1:c.20_205del
NM_001321336.2:c.-73-6966_-73-6781del
NM_001321337.2:c.-73-6966_-73-6781del
NP_000040.1:p.Ala7_Leu69delinsVal
NP_001121557.1:p.Ala7_Leu69delinsVal
NC_000017.10:g.3379473_3379658del

Molecular consequence:

NM_000049.4:c.20_205del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001128085.1:c.20_205del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001321336.2:c.-73-6966_-73-6781del - intron variant - [Sequence Ontology: SO:0001627]
NM_001321337.2:c.-73-6966_-73-6781del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Spongy degeneration of central nervous system
Synonyms:: Canavan disease; Canavan-van Bogaert-Bertrand disease; Spongy degeneration of the central nervous system; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010079; MedGen: C0206307; Orphanet: 141; OMIM: 271900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003786176	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 5, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 8659549, 12638939, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003786176

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 5, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.

J Inherit Metab Dis. 2002 Nov;25(7):557-70.

PubMed [citation]

PMID:: 12638939

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003786176.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant, c.20_205del, is a complex sequence change that results in the deletion of 63 amino acid(s) in the ASPA protein (p.Ala7_Leu69delinsVal). This variant has not been reported in the literature in individuals affected with ASPA-related conditions. This variant disrupts a region of the ASPA protein in which other variant(s) (p.Ile16Thr) have been determined to be pathogenic (PMID: 8659549, 12638939). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 30, 2023

ClinVar

Relating variation to medicine