NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) AND Mucopolysaccharidosis

Clinical significance:Pathogenic (Last evaluated: Sep 4, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001030803.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)]

NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)

Gene:
HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
HGVS:
  • NC_000008.11:g.43197842C>G
  • NG_009552.1:g.62394C>G
  • NM_001363227.2:c.1703C>G
  • NM_001363228.2:c.1424C>G
  • NM_001363229.2:c.752C>G
  • NM_152419.3:c.1616C>GMANE SELECT
  • NP_001350156.1:p.Ser568Cys
  • NP_001350157.1:p.Ser475Cys
  • NP_001350158.1:p.Ser251Cys
  • NP_689632.2:p.Ser539Cys
  • NC_000008.10:g.43052985C>G
Protein change:
S251C
Links:
dbSNP: rs1372286994
NCBI 1000 Genomes Browser:
rs1372286994
Molecular consequence:
  • NM_001363227.2:c.1703C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363228.2:c.1424C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363229.2:c.752C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152419.3:c.1616C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mucopolysaccharidosis (MPS)
Synonyms:
Mucopolysaccharidoses
Identifiers:
MONDO: MONDO:0019249; MedGen: C0026703; OMIM: PS607014

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001194292GeneReviewsno assertion criteria providedPathogenic
(Sep 4, 2019)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA.

Mol Genet Metab. 2008 Feb;93(2):104-11. Epub 2007 Nov 19.

PubMed [citation]
PMID:
18024218

Mucopolysaccharidosis Type III.

Wagner VF, Northrup H.

2019 Sep 19. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

PubMed [citation]
PMID:
31536183

Details of each submission

From GeneReviews, SCV001194292.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center