NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) AND Mucopolysaccharidosis, MPS-III-C

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001159324.2

Allele description [Variation Report for NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)]

NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)

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.710C>T (p.Pro237Leu)
HGVS:
  • NC_000008.11:g.43170661C>T
  • NG_009552.1:g.35213C>T
  • NM_001363227.2:c.710C>T
  • NM_001363228.2:c.710C>T
  • NM_001363229.2:c.-124C>T
  • NM_152419.3:c.710C>TMANE SELECT
  • NP_001350156.1:p.Pro237Leu
  • NP_001350157.1:p.Pro237Leu
  • NP_689632.2:p.Pro237Leu
  • NC_000008.10:g.43025804C>T
  • NM_152419.2:c.710C>T
Protein change:
P237L
Links:
dbSNP: rs727503962
NCBI 1000 Genomes Browser:
rs727503962
Molecular consequence:
  • NM_001363229.2:c.-124C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001363227.2:c.710C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363228.2:c.710C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152419.3:c.710C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001321031Illumina Laboratory Services,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services,Illumina, SCV001321031.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Jan 8, 2022

Support Center