NM_152419.3(HGSNAT):c.1542+1G>C AND Mucopolysaccharidosis, MPS-III-C

Clinical significance:Likely pathogenic (Last evaluated: Jun 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667942.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1542+1G>C]

NM_152419.3(HGSNAT):c.1542+1G>C

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.1542+1G>C
HGVS:
  • NC_000008.11:g.43197026G>C
  • NG_009552.1:g.61578G>C
  • NM_001363227.2:c.1629+1G>C
  • NM_001363228.2:c.1350+1G>C
  • NM_001363229.2:c.678+1G>C
  • NM_152419.3:c.1542+1G>CMANE SELECT
  • NC_000008.10:g.43052169G>C
  • NM_152419.2:c.1542+1G>C
Links:
dbSNP: rs1554537612
NCBI 1000 Genomes Browser:
rs1554537612
Molecular consequence:
  • NM_001363227.2:c.1629+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363228.2:c.1350+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363229.2:c.678+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_152419.3:c.1542+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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

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
SCV000792471Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 26, 2017)
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, SCV000792471.1

#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: Nov 27, 2021

Support Center