NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs) AND Mucopolysaccharidosis, MPS-III-C

Clinical significance:Likely pathogenic (Last evaluated: Jun 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674983.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)]

NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)

Gene:
HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)
HGVS:
  • NC_000008.11:g.43140505_43140506insCG
  • NG_009552.1:g.5057_5058insCG
  • NM_001363227.2:c.9_10insCG
  • NM_001363228.2:c.9_10insCG
  • NM_001363229.2:c.-825_-824insCG
  • NM_152419.3:c.9_10insCGMANE SELECT
  • NP_001350156.1:p.Ala4fs
  • NP_001350157.1:p.Ala4fs
  • NP_689632.2:p.Ala4fs
  • NC_000008.10:g.42995648_42995649insCG
  • NM_152419.2:c.9_10insCG
Protein change:
A4fs
Links:
dbSNP: rs1554526454
NCBI 1000 Genomes Browser:
rs1554526454
Molecular consequence:
  • NM_001363229.2:c.-825_-824insCG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001363227.2:c.9_10insCG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363228.2:c.9_10insCG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152419.3:c.9_10insCG - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800403Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 6, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000800403.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 7, 2021

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