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NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) AND Mucopolysaccharidosis, MPS-III-A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 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:
RCV001831559.1

Allele description [Variation Report for NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)]

NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)

Gene:
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
HGVS:
  • NC_000023.11:g.149483072G>A
  • NG_011900.3:g.27263C>T
  • NM_000202.8:c.1327C>TMANE SELECT
  • NM_001166550.4:c.1057C>T
  • NP_000193.1:p.Arg443Ter
  • NP_001160022.1:p.Arg353Ter
  • NC_000023.10:g.148564603G>A
  • NM_000202.6:c.1327C>T
Protein change:
R353*; ARG443TER
Links:
OMIM: 300823.0001; dbSNP: rs199422227
NCBI 1000 Genomes Browser:
rs199422227
Molecular consequence:
  • NM_000202.8:c.1327C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166550.4:c.1057C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002084457Natera, Inc.
no assertion criteria provided
Pathogenic
(Dec 8, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002084457.1

#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: Feb 20, 2024