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NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs) AND Mucopolysaccharidosis, MPS-III-C

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 14, 2022
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:
RCV002308263.2

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)]

NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)

Gene:
HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)
HGVS:
  • NC_000008.11:g.43192411_43192414del
  • NG_009552.1:g.56963_56966del
  • NM_001363227.2:c.1358_1361del
  • NM_001363228.2:c.1166_1169del
  • NM_001363229.2:c.494_497del
  • NM_152419.3:c.1358_1361delMANE SELECT
  • NP_001350156.1:p.Tyr453fs
  • NP_001350157.1:p.Tyr389fs
  • NP_001350158.1:p.Tyr165fs
  • NP_689632.2:p.Tyr453fs
  • NC_000008.10:g.43047554_43047557del
Protein change:
Y165fs
Molecular consequence:
  • NM_001363227.2:c.1358_1361del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363228.2:c.1166_1169del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363229.2:c.494_497del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152419.3:c.1358_1361del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002601957Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 14, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002601957.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_152419.2(HGSNAT):c.1358_1361delACCA(Y453Cfs*28) is expected to be pathogenic in the context of mucopolysaccharidosis type IIIC. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HGSNAT, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022