NM_000049.4(ASPA):c.650_651del (p.Pro217fs) AND Spongy degeneration of central nervous system

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 12, 2016
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:: RCV000409139.11

Allele description [Variation Report for NM_000049.4(ASPA):c.650_651del (p.Pro217fs)]

NM_000049.4(ASPA):c.650_651del (p.Pro217fs)

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.650_651del (p.Pro217fs)

HGVS:

NC_000017.11:g.3494365_3494366del
NG_008399.2:g.25720_25721del
NG_008399.3:g.25257_25258del
NM_000049.4:c.650_651delMANE SELECT
NM_001128085.1:c.650_651del
NM_001321336.2:c.-74+19047_-74+19048del
NM_001321337.2:c.-74+19047_-74+19048del
NP_000040.1:p.Pro217fs
NP_001121557.1:p.Pro217fs
NC_000017.10:g.3397659_3397660del
NM_000049.2:c.650_651delCC

Protein change:

P217fs

Links:

dbSNP: rs1057516498

NCBI 1000 Genomes Browser:

rs1057516498

Molecular consequence:

NM_000049.4:c.650_651del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128085.1:c.650_651del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001321336.2:c.-74+19047_-74+19048del - intron variant - [Sequence Ontology: SO:0001627]
NM_001321337.2:c.-74+19047_-74+19048del - 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
SCV000485777	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 12, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485777

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Feb 12, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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	clinical testing

Details of each submission

From Counsyl, SCV000485777.2

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

#	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: Jul 15, 2024

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