NM_000199.5(SGSH):c.763del (p.Gln255fs) AND Mucopolysaccharidosis, MPS-III-A

Clinical significance:Pathogenic (Last evaluated: Jun 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000499531.2

Allele description [Variation Report for NM_000199.5(SGSH):c.763del (p.Gln255fs)]

NM_000199.5(SGSH):c.763del (p.Gln255fs)

Gene:
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000199.5(SGSH):c.763del (p.Gln255fs)
HGVS:
  • NC_000017.11:g.80212258del
  • NG_008229.1:g.13144del
  • NM_000199.5:c.763delMANE SELECT
  • NM_001352921.2:c.763del
  • NM_001352922.2:c.763del
  • NP_000190.1:p.Gln255fs
  • NP_001339850.1:p.Gln255fs
  • NP_001339851.1:p.Gln255fs
  • NC_000017.10:g.78186057del
  • NM_000199.3:c.763delC
  • NR_148201.2:n.677del
Protein change:
Q255fs
Links:
dbSNP: rs1555620827
NCBI 1000 Genomes Browser:
rs1555620827
Molecular consequence:
  • NM_000199.5:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352921.2:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352922.2:c.763del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_148201.2:n.677del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000590926Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Pathogenic
(Jun 7, 2017)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Persianinheritedyes1not 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 Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000590926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Persian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 7, 2021

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