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NM_002076.4(GNS):c.*2611dup AND Sanfilippo syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000283057.5

Allele description [Variation Report for NM_002076.4(GNS):c.*2611dup]

NM_002076.4(GNS):c.*2611dup

Gene:
GNS:glucosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q14.3
Genomic location:
Preferred name:
NM_002076.4(GNS):c.*2611dup
HGVS:
  • NC_000012.12:g.64714138dup
  • NG_008955.1:g.50317dup
  • NM_002076.4:c.*2611dupMANE SELECT
  • NC_000012.11:g.65107918dup
  • NM_002076.3:c.*2611dupT
Links:
dbSNP: rs201933913
NCBI 1000 Genomes Browser:
rs201933913
Molecular consequence:
  • NM_002076.4:c.*2611dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000380804Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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, SCV000380804.2

#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: Apr 9, 2023