NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Oct 11, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000592259.3

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)]

NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)

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.1567A>C (p.Lys523Gln)
HGVS:
  • NC_000008.11:g.43197696A>C
  • NG_009552.1:g.62248A>C
  • NM_001363227.2:c.1654A>C
  • NM_001363228.2:c.1375A>C
  • NM_001363229.2:c.703A>C
  • NM_152419.3:c.1567A>CMANE SELECT
  • NP_001350156.1:p.Lys552Gln
  • NP_001350157.1:p.Lys459Gln
  • NP_001350158.1:p.Lys235Gln
  • NP_689632.2:p.Lys523Gln
  • NC_000008.10:g.43052839A>C
  • NM_152419.2:c.1567A>C
Protein change:
K235Q
Links:
dbSNP: rs73569592
NCBI 1000 Genomes Browser:
rs73569592
Molecular consequence:
  • NM_001363227.2:c.1654A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363228.2:c.1375A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363229.2:c.703A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152419.3:c.1567A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700339EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jan 5, 2017)
germlineclinical testing

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

Citation Link,

SCV001923003Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV002014885Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Oct 11, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

Fedele AO, Hopwood JJ.

Hum Mutat. 2010 Jul;31(7):E1574-86. doi: 10.1002/humu.21286.

PubMed [citation]
PMID:
20583299

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000700339.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001923003.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002014885.1

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

Last Updated: Nov 20, 2021

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