NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) AND Mucopolysaccharidosis, MPS-III-C

Clinical significance:Likely pathogenic (Last evaluated: Aug 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669029.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)]

NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)

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.1674C>G (p.Tyr558Ter)
HGVS:
  • NC_000008.11:g.43197900C>G
  • NG_009552.1:g.62452C>G
  • NM_001363227.2:c.1761C>G
  • NM_001363228.2:c.1482C>G
  • NM_001363229.2:c.810C>G
  • NM_152419.3:c.1674C>GMANE SELECT
  • NP_001350156.1:p.Tyr587Ter
  • NP_001350157.1:p.Tyr494Ter
  • NP_001350158.1:p.Tyr270Ter
  • NP_689632.2:p.Tyr558Ter
  • NC_000008.10:g.43053043C>G
  • NM_152419.2:c.1674C>G
Protein change:
Y270*
Links:
dbSNP: rs1554537841
NCBI 1000 Genomes Browser:
rs1554537841
Molecular consequence:
  • NM_001363227.2:c.1761C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363228.2:c.1482C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363229.2:c.810C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152419.3:c.1674C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-C (MPS3C)
Synonyms:
Mucopoly-saccharidosis type 3C; Sanfilippo syndrome C; Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009657; MedGen: C0086649; Orphanet: 581; Orphanet: 79271; OMIM: 252930

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000793727Counsylcriteria provided, single submitter
Likely pathogenic
(Aug 31, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV.

Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Review.

PubMed [citation]
PMID:
19479962

Details of each submission

From Counsyl, SCV000793727.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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