U.S. flag

An official website of the United States government

NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) AND Mucopolysaccharidosis, MPS-III-C

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 9, 2017
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:
RCV000626050.2

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)]

NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)

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.1267G>T (p.Gly423Trp)
HGVS:
  • NC_000008.11:g.43192320G>T
  • NG_009552.1:g.56872G>T
  • NM_001363227.2:c.1267G>T
  • NM_001363228.2:c.1075G>T
  • NM_001363229.2:c.403G>T
  • NM_152419.3:c.1267G>TMANE SELECT
  • NP_001350156.1:p.Gly423Trp
  • NP_001350157.1:p.Gly359Trp
  • NP_001350158.1:p.Gly135Trp
  • NP_689632.2:p.Gly423Trp
  • NC_000008.10:g.43047463G>T
  • NM_152419.2:c.1267G>T
  • p.G423W
Protein change:
G135W
Links:
dbSNP: rs1064795522
NCBI 1000 Genomes Browser:
rs1064795522
Molecular consequence:
  • NM_001363227.2:c.1267G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363228.2:c.1075G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363229.2:c.403G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152419.3:c.1267G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000746670Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 9, 2017) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Whitematernalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746670.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1White1not providednot providedclinical testing
(GTR000553916.1)		 PubMed (1)

Description

Two heterozygous variants of unknown significance, c.1042G>A (p.V348M) and c.1267G>T (p.G423W) were detected in the HGSNAT gene in this individual. Whole exome sequencing and Sanger confirmation showed that the father is heterozygous for the p.V348M change, and the mother is heterozygous for the p.G423W change. Our data indicate that the two changes in HGSNAT are in trans (compound heterozygous) configuration.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided
(GTR000553916.1)		1not providednot providednot provided

Last Updated: Sep 29, 2024