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NM_000049.4(ASPA):c.809T>C (p.Ile270Thr) AND Spongy degeneration of central nervous system

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV001580629.11

Allele description [Variation Report for NM_000049.4(ASPA):c.809T>C (p.Ile270Thr)]

NM_000049.4(ASPA):c.809T>C (p.Ile270Thr)

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.809T>C (p.Ile270Thr)
HGVS:
  • NC_000017.11:g.3498955T>C
  • NG_008399.2:g.30310T>C
  • NG_008399.3:g.29847T>C
  • NM_000049.4:c.809T>CMANE SELECT
  • NM_001128085.1:c.809T>C
  • NM_001321336.2:c.-74+14457A>G
  • NM_001321337.2:c.-74+14457A>G
  • NP_000040.1:p.Ile270Thr
  • NP_000040.1:p.Ile270Thr
  • NP_001121557.1:p.Ile270Thr
  • NC_000017.10:g.3402249T>C
  • NM_000049.3:c.809T>C
Protein change:
I270T
Links:
dbSNP: rs200126822
NCBI 1000 Genomes Browser:
rs200126822
Molecular consequence:
  • NM_001321336.2:c.-74+14457A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321337.2:c.-74+14457A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000049.4:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128085.1:c.809T>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001810272Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001810272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024