NM_000049.4(ASPA):c.32del (p.Ile11fs) AND Spongy degeneration of central nervous system

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Nov 6, 2014
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:: RCV000169442.13

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:: 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022887	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1996)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000220859	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Nov 6, 2014)	unknown	literature only	PubMed (1) [See all records that cite this PMID] Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022887

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1996)

germline

literature only

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

SCV000220859

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Nov 6, 2014)

unknown

literature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

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

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

Details of each submission

From OMIM, SCV000022887.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In the only known patient of African American origin with Canavan disease (271900), Kaul et al. (1996) demonstrated homozygosity for deletion of a T at position 32 in the sequence of the ASPA cDNA.

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

From Counsyl, SCV000220859.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Nov 3, 2024

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