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NM_000022.4(ADA):c.704G>A (p.Arg235Gln)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Oct 12, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000228244.5
Variation ID:
228244
Description:
single nucleotide variant
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NM_000022.4(ADA):c.704G>A (p.Arg235Gln)

Allele ID
231104
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 44622905 (GRCh38) GRCh38 UCSC
20: 43251546 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_16:g.33831G>A
LRG_16t1:c.704G>A
NC_000020.10:g.43251546C>T
... more HGVS
Protein change
R235Q, R211Q, R100Q
Other names
-
Canonical SPDI
NC_000020.11:44622904:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA10577124
dbSNP: rs79281338
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Aug 10, 2021 RCV000215113.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ADA - - GRCh38
GRCh37
281 344

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 06, 2017)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
Allele origin: unknown
Counsyl
Accession: SCV000794032.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (4)
Likely pathogenic
(Nov 09, 2015)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000271204.2
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (5)
Comment:
The p.Arg235Gln variant in ADA has been reported in 3 individuals with SCID due to adenosine deaminase deficiency, confirmed by decreased ADA enzyme activity in … (more)
Pathogenic
(May 04, 2020)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
Allele origin: germline
Invitae
Accession: SCV000813414.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces arginine with glutamine at codon 235 of the ADA protein (p.Arg235Gln). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001977498.1
Submitted: (Oct 12, 2021)
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. Fazlollahi MR Journal of investigational allergology & clinical immunology 2017 PMID: 28266921
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. Baffelli R Journal of clinical immunology 2015 PMID: 26376800
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. Adams SP Clinical immunology (Orlando, Fla.) 2015 PMID: 26255240
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. Dalal I Clinical immunology (Orlando, Fla.) 2011 PMID: 21624848
Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography. van Kuilenburg AB Nucleosides, nucleotides & nucleic acids 2010 PMID: 20544538
Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Hershfield MS Current opinion in immunology 2003 PMID: 14499267
T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation. Ariga T Blood 2001 PMID: 11313286
Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. Ariga T Journal of immunology (Baltimore, Md. : 1950) 2001 PMID: 11160213

Text-mined citations for rs79281338...

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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 Nov 27, 2021