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NM_000199.5(SGSH):c.249+52G>A AND Mucopolysaccharidosis, MPS-III-A

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 17, 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:
RCV001827459.1

Allele description [Variation Report for NM_000199.5(SGSH):c.249+52G>A]

NM_000199.5(SGSH):c.249+52G>A

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.249+52G>A
HGVS:
  • NC_000017.11:g.80216980C>T
  • NG_008229.1:g.8421G>A
  • NM_000199.5:c.249+52G>AMANE SELECT
  • NM_001352921.3:c.249+52G>A
  • NM_001352922.2:c.249+52G>A
  • NC_000017.10:g.78190779C>T
Links:
dbSNP: rs113672699
NCBI 1000 Genomes Browser:
rs113672699
Molecular consequence:
  • NM_000199.5:c.249+52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352921.3:c.249+52G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352922.2:c.249+52G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-A (MPS3A)
Synonyms:
SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002095146Natera, Inc.
no assertion criteria provided
Benign
(Oct 17, 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., SCV002095146.1

#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: Sep 29, 2024