NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter) AND Mucopolysaccharidosis, MPS-III-C

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 16, 2019
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:: RCV001263602.3

Allele description [Variation Report for NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)]

NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)

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.391G>T (p.Glu131Ter)

HGVS:

NC_000008.11:g.43158942G>T
NG_009552.1:g.23494G>T
NM_001363227.2:c.391G>T
NM_001363228.2:c.391G>T
NM_001363229.2:c.-443G>T
NM_152419.3:c.391G>TMANE SELECT
NP_001350156.1:p.Glu131Ter
NP_001350157.1:p.Glu131Ter
NP_689632.2:p.Glu131Ter
NC_000008.10:g.43014085G>T

Protein change:

E131*

Links:

dbSNP: rs1803181154

NCBI 1000 Genomes Browser:

rs1803181154

Molecular consequence:

NM_001363229.2:c.-443G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001363227.2:c.391G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001363228.2:c.391G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_152419.3:c.391G>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001441694	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (Jun 16, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441694

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(Jun 16, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV001441694.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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