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

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 31, 2020
Accession:
VCV000195036.4
Variation ID:
195036
Description:
single nucleotide variant
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NM_000202.8(IDS):c.104A>G (p.Asp35Gly)

Allele ID
192198
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 149504293 (GRCh38) GRCh38 UCSC
X: 148585823 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.148585823T>C
NC_000023.11:g.149504293T>C
NM_000202.8:c.104A>G MANE Select NP_000193.1:p.Asp35Gly missense
... more HGVS
Protein change
D35G
Other names
-
Canonical SPDI
NC_000023.11:149504292:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00027
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00057
The Genome Aggregation Database (gnomAD) 0.00018
Exome Aggregation Consortium (ExAC) 0.00025
Links
dbSNP: rs144081417
ClinGen: CA241305
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Jun 2, 2014 RCV000675884.3
Benign 1 criteria provided, single submitter Oct 31, 2020 RCV001081199.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IDS Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
212 630

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 02, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227053.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 31, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-II
Allele origin: germline
Invitae
Accession: SCV001018443.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 15, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801610.1
Submitted: (May 23, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IDS - - - -

Text-mined citations for rs144081417...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 27, 2021