NM_000049.4(ASPA):c.428T>C (p.Ile143Thr) AND Spongy degeneration of central nervous system

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Feb 8, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000673780.11

Allele description [Variation Report for NM_000049.4(ASPA):c.428T>C (p.Ile143Thr)]

NM_000049.4(ASPA):c.428T>C (p.Ile143Thr)

Genes:

ASPA:aspartoacylase [Gene - OMIM - HGNC]
SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_000049.4(ASPA):c.428T>C (p.Ile143Thr)

HGVS:

NC_000017.11:g.3481794T>C
NG_008399.2:g.13149T>C
NG_008399.3:g.12686T>C
NM_000049.4:c.428T>CMANE SELECT
NM_001128085.1:c.428T>C
NM_001321336.2:c.-73-12396A>G
NM_001321337.2:c.-73-12396A>G
NP_000040.1:p.Ile143Thr
NP_001121557.1:p.Ile143Thr
NC_000017.10:g.3385088T>C
NM_000049.2:c.428T>C

Protein change:

I143T

Links:

dbSNP: rs777936704

NCBI 1000 Genomes Browser:

rs777936704

Molecular consequence:

NM_001321336.2:c.-73-12396A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001321337.2:c.-73-12396A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000049.4:c.428T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128085.1:c.428T>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Homo sapiens modulator of smoothened (MOSMO), mRNA
Homo sapiens modulator of smoothened (MOSMO), mRNA
gi|1519312008|ref|NM_001164579.2|

Nucleotide
MOSMO modulator of smoothened [Homo sapiens]
MOSMO modulator of smoothened [Homo sapiens]
Gene ID:730094

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000799023	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Apr 6, 2018)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9452117, 17391648, 22850825 Citation Link,
SCV005052774	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 8, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799023

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Apr 6, 2018)

unknown

clinical testing

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

Citation Link,

SCV005052774

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 8, 2024)

unknown

clinical testing

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

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	clinical testing

Citations

PubMed

Missense mutation (I143T) in a Japanese patient with Canavan disease.

Kobayashi K, Tsujino S, Ezoe T, Hamaguchi H, Nihei K, Sakuragawa N.

Hum Mutat. 1998;Suppl 1:S308-9. No abstract available.

PubMed [citation]

PMID:: 9452117

Mutational analysis of aspartoacylase: implications for Canavan disease.

Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA.

Brain Res. 2007 May 7;1148:1-14. Epub 2007 Mar 3.

PubMed [citation]

PMID:: 17391648
PMCID:: PMC1933483

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000799023.1

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

#	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

From Baylor Genetics, SCV005052774.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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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