NM_000202.8(IDS):c.925A>G (p.Thr309Ala) AND Mucopolysaccharidosis, MPS-II

Clinical significance:Benign (Last evaluated: Dec 4, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000990962.3

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]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-II (MPS2)
Synonyms:
Mucopolysaccharidosis type II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010674; MedGen: C0026705; Orphanet: 580; OMIM: 309900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001014704Invitaecriteria provided, single submitter
Benign
(Dec 4, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001142035Mendelicscriteria provided, single submitter
Benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001014704.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001142035.1

#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: Dec 2, 2021

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