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NM_002076.4(GNS):c.1155C>A (p.Asp385Glu) AND Sanfilippo syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 22, 2019
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:
RCV001826336.1

Allele description [Variation Report for NM_002076.4(GNS):c.1155C>A (p.Asp385Glu)]

NM_002076.4(GNS):c.1155C>A (p.Asp385Glu)

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.1155C>A (p.Asp385Glu)
HGVS:
  • NC_000012.12:g.64729001G>T
  • NG_008955.1:g.35446C>A
  • NM_002076.4:c.1155C>AMANE SELECT
  • NP_002067.1:p.Asp385Glu
  • NC_000012.11:g.65122781G>T
  • NM_002076.3:c.1155C>A
Protein change:
D385E
Links:
dbSNP: rs755021062
NCBI 1000 Genomes Browser:
rs755021062
Molecular consequence:
  • NM_002076.4:c.1155C>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002091712Natera, Inc.
no assertion criteria provided
Benign
(Oct 22, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002091712.1

#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: May 26, 2024