NM_002076.4(GNS):c.4C>T (p.Arg2Trp) AND Sanfilippo syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 14, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001271998.1

Allele description [Variation Report for NM_002076.4(GNS):c.4C>T (p.Arg2Trp)]

NM_002076.4(GNS):c.4C>T (p.Arg2Trp)

Gene:

GNS:glucosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q14.3

Genomic location:

Preferred name:

NM_002076.4(GNS):c.4C>T (p.Arg2Trp)

HGVS:

NC_000012.12:g.64759273G>A
NG_008955.1:g.5174C>T
NM_002076.4:c.4C>TMANE SELECT
NP_002067.1:p.Arg2Trp
NC_000012.11:g.65153053G>A
NM_002076.3:c.4C>T

Protein change:

R2W

Links:

dbSNP: rs200441930

NCBI 1000 Genomes Browser:

rs200441930

Molecular consequence:

NM_002076.4:c.4C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Sanfilippo syndrome
Synonyms:: Mucopolysaccharidosis type III; Mucopoly-saccharidosis type 3; Mucopolysaccharidosis type 3; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018937; MedGen: C0026706

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001453626	Natera, Inc.	no assertion criteria provided	Likely benign (Jan 14, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001453626

Natera, Inc.

no assertion criteria provided

Likely benign
(Jan 14, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001453626.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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