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NM_000199.5(SGSH):c.356-2A>G AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 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:
RCV000412969.1

Allele description [Variation Report for NM_000199.5(SGSH):c.356-2A>G]

NM_000199.5(SGSH):c.356-2A>G

Gene:
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000199.5(SGSH):c.356-2A>G
HGVS:
  • NC_000017.11:g.80214767T>C
  • NG_008229.1:g.10634A>G
  • NG_008229.2:g.10566A>G
  • NM_000199.5:c.356-2A>GMANE SELECT
  • NM_001352921.3:c.356-2A>G
  • NM_001352922.2:c.356-2A>G
  • NC_000017.10:g.78188566T>C
  • NM_000199.3:c.356-2A>G
Links:
dbSNP: rs1057517927
NCBI 1000 Genomes Browser:
rs1057517927
Molecular consequence:
  • NM_000199.5:c.356-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001352921.3:c.356-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001352922.2:c.356-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491088GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Dec 1, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491088.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.356-2 A>G splice site variant in the SGSH gene destroys the canonical splice acceptor site in intron 3. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Additionally, the c.356-2 A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, although this pathogenic variant has not been previously reported to our knowledge, it is predicted to be a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024