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NM_000202.8(IDS):c.309C>G (p.Tyr103Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 30, 2016
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:
RCV000675883.5

Allele description [Variation Report for NM_000202.8(IDS):c.309C>G (p.Tyr103Ter)]

NM_000202.8(IDS):c.309C>G (p.Tyr103Ter)

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.309C>G (p.Tyr103Ter)
HGVS:
  • NC_000023.11:g.149503421G>C
  • NG_011900.3:g.6914C>G
  • NM_000202.8:c.309C>GMANE SELECT
  • NM_001166550.4:c.39C>G
  • NM_006123.5:c.309C>G
  • NP_000193.1:p.Tyr103Ter
  • NP_001160022.1:p.Tyr13Ter
  • NP_006114.1:p.Tyr103Ter
  • NC_000023.10:g.148584951G>C
  • NM_000202.6:c.309C>G
  • NR_104128.2:n.478C>G
Protein change:
Y103*
Links:
dbSNP: rs1174495581
NCBI 1000 Genomes Browser:
rs1174495581
Molecular consequence:
  • NR_104128.2:n.478C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000202.8:c.309C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166550.4:c.39C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006123.5:c.309C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000801609Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Pathogenic
(Dec 30, 2016) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801609.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024