NM_000202.8(IDS):c.925A>G (p.Thr309Ala) AND History of neurodevelopmental disorder

Clinical significance:Benign (Last evaluated: Apr 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000715643.1

Allele description [Variation Report for NM_000202.8(IDS):c.925A>G (p.Thr309Ala)]

NM_000202.8(IDS):c.925A>G (p.Thr309Ala)

Genes:
LOC106050102:IDS recombination region [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.925A>G (p.Thr309Ala)
HGVS:
  • NC_000023.11:g.149490395T>C
  • NG_011900.3:g.19940A>G
  • NG_042264.1:g.3750T>C
  • NM_000202.8:c.925A>GMANE SELECT
  • NM_001166550.4:c.655A>G
  • NM_006123.5:c.925A>G
  • NP_000193.1:p.Thr309Ala
  • NP_001160022.1:p.Thr219Ala
  • NP_006114.1:p.Thr309Ala
  • NC_000023.10:g.148571926T>C
  • NM_000202.5:c.925A>G
  • NM_000202.6:c.925A>G
  • NR_104128.2:n.1224A>G
  • P22304:p.Thr309Ala
Protein change:
T219A
Links:
UniProtKB: P22304#VAR_026945; dbSNP: rs145807417
NCBI 1000 Genomes Browser:
rs145807417
Molecular consequence:
  • NM_000202.8:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166550.4:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006123.5:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104128.2:n.1224A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000846473Ambry Geneticscriteria provided, single submitter
Benign
(Apr 18, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000846473.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Does not segregate with disease in family study (genes with complete penetrance);In silico models in agreement (benign)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 2, 2021

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