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NM_000022.4(ADA):c.33+1G>C AND Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1994
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:
RCV000002053.2

Allele description [Variation Report for NM_000022.4(ADA):c.33+1G>C]

NM_000022.4(ADA):c.33+1G>C

Genes:
LOC107303343:adenosine deaminase intronic regulatory elements [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.33+1G>C
HGVS:
  • NC_000020.11:g.44651574C>G
  • NG_007385.1:g.5162G>C
  • NG_046759.1:g.22671C>G
  • NG_046759.2:g.22671C>G
  • NM_000022.4:c.33+1G>CMANE SELECT
  • NM_001322050.2:c.-257+1G>C
  • NM_001322051.2:c.33+1G>C
  • LRG_16t1:c.33+1G>C
  • LRG_16:g.5162G>C
  • NC_000020.10:g.43280215C>G
  • NM_000022.2:c.33+1G>C
Nucleotide change:
IVS1DS, G-C, +1
Links:
OMIM: 608958.0024; dbSNP: rs587776534
NCBI 1000 Genomes Browser:
rs587776534
Molecular consequence:
  • NM_000022.4:c.33+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001322050.2:c.-257+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001322051.2:c.33+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Synonyms:
ADA-SCID; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET; ADA deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007064; MedGen: C1863236; Orphanet: 277; OMIM: 102700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022211OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1994) 		unknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Details of each submission

From OMIM, SCV000022211.1

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

Description

In a 2.5-year-old patient with SCID due to ADA deficiency (102700), Hirschhorn et al. (1994) identified compound heterozygosity for 2 mutations in the ADA gene: a +1G-C transversion at the donor splice site in IVS1, and R101Q (608958.0003). The patient's disease course improved, and he was healthy by age 16 years. Cell lines established at age 16 showed 50% of normal ADA activity; 50% of ADA mRNA had normal sequence, and 50% had the R101Q mutation. Genomic DNA contained the missense mutation but not the splice site mutation. The authors postulated somatic mutation or reversion at the site of the mutation.

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

Last Updated: Jun 10, 2023