NM_000202.8(IDS):c.104A>G (p.Asp35Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 2, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000675884.3

Allele description [Variation Report for NM_000202.8(IDS):c.104A>G (p.Asp35Gly)]

NM_000202.8(IDS):c.104A>G (p.Asp35Gly)

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.104A>G (p.Asp35Gly)
HGVS:
  • NC_000023.11:g.149504293T>C
  • NG_011900.3:g.6042A>G
  • NM_000202.8:c.104A>GMANE SELECT
  • NM_001166550.4:c.-123A>G
  • NM_006123.5:c.104A>G
  • NP_000193.1:p.Asp35Gly
  • NP_006114.1:p.Asp35Gly
  • NC_000023.10:g.148585823T>C
  • NM_000202.6:c.104A>G
  • NR_104128.2:n.273A>G
Protein change:
D35G
Links:
dbSNP: rs144081417
NCBI 1000 Genomes Browser:
rs144081417
Molecular consequence:
  • NM_001166550.4:c.-123A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000202.8:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006123.5:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104128.2:n.273A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000227053EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 2, 2014)
germlineclinical testing

Citation Link,

SCV000801610Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedLikely benign
(Jun 15, 2017)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000227053.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801610.1

#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: Aug 27, 2021

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