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NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) AND Mucopolysaccharidosis, MPS-III-A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000031971.3

Allele description [Variation Report for NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)]

NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)

Gene:
GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
HGVS:
  • NC_000012.12:g.101764863_101764867del
  • NG_021243.1:g.71004_71008del
  • NM_024312.4:c.2053_2057delTCAAC
  • NM_024312.5:c.2053_2057delMANE SELECT
  • NP_077288.2:p.Ser685fs
  • NC_000012.11:g.102158638_102158642del
  • NC_000012.11:g.102158641_102158645del
  • NM_024312.4:c.2051_2055delACTCA
  • NM_024312.5:c.2053_2057del
Nucleotide change:
AY687932:c.2051_2055delACTCA
Protein change:
S685fs
Links:
dbSNP: rs34901902
NCBI 1000 Genomes Browser:
rs34901902
Molecular consequence:
  • NM_024312.5:c.2053_2057del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-A (MPS3A)
Synonyms:
SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000054665GeneReviews
no assertion criteria provided
pathologic
(May 10, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000054665.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: May 1, 2024