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NM_000022.4(ADA):c.698C>T (p.Thr233Ile) AND Partial adenosine deaminase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1997
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000002057.2

Allele description [Variation Report for NM_000022.4(ADA):c.698C>T (p.Thr233Ile)]

NM_000022.4(ADA):c.698C>T (p.Thr233Ile)

Gene:
ADA:adenosine deaminase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_000022.4(ADA):c.698C>T (p.Thr233Ile)
HGVS:
  • NC_000020.11:g.44622911G>A
  • NG_007385.1:g.33825C>T
  • NM_000022.4:c.698C>TMANE SELECT
  • NM_001322050.2:c.293C>T
  • NM_001322051.2:c.626C>T
  • NP_000013.2:p.Thr233Ile
  • NP_001308979.1:p.Thr98Ile
  • NP_001308980.1:p.Thr209Ile
  • LRG_16t1:c.698C>T
  • LRG_16:g.33825C>T
  • NC_000020.10:g.43251552G>A
  • NM_000022.2:c.698C>T
  • NR_136160.2:n.790C>T
  • P00813:p.Thr233Ile
Protein change:
T209I; THR233ILE
Links:
UniProtKB: P00813#VAR_002235; UniProtKB/Swiss-Prot: VAR_002235; OMIM: 608958.0028; dbSNP: rs121908729
NCBI 1000 Genomes Browser:
rs121908729
Molecular consequence:
  • NM_000022.4:c.698C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322050.2:c.293C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322051.2:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136160.2:n.790C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Partial adenosine deaminase deficiency
Synonyms:
PARTIAL ADA DEFICIENCY
Identifiers:
MedGen: C1863239

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022215OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Details of each submission

From OMIM, SCV000022215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a healthy adult male of Afghan Kung descent with partial ADA deficiency (102700), Hirschhorn et al. (1997) identified a homozygous 698C-T transition in the ADA gene, resulting in a thr233-to-ile (T233I) substitution. Functional expression studies showed that the T233I mutation had 16 to 20% normal enzyme activity, which was slightly greater than the pathogenic R211C (608958.0014) mutation. Immunologic studies done previously on the patient indicated an unstable ADA enzyme that was absent in red blood cells but present in sufficient amounts in other cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024