NM_000022.2(ADA):c.631C>T (p.Arg211Cys)

NM_000022.2(ADA):c.631C>T (p.Arg211Cys)

Variant type:
single nucleotide variant
Cytogenetic location:
20q13.1
Genomic location:
  • Chr20:44623054 (on Assembly GRCh38)
  • Chr20:43251695 (on Assembly GRCh37)
Protein change:
R211C
HGVS:
  • NG_007385.1:g.33682C>T
  • NM_000022.2:c.631C>T
  • NC_000020.11:g.44623054G>A (GRCh38)
  • NP_000013.2:p.Arg211Cys
  • LRG_16t1:c.631C>T
  • NC_000020.10:g.43251695G>A (GRCh37)
  • LRG_16p1:p.Arg211Cys
  • LRG_16:g.33682C>T
Links:
NCBI 1000 Genomes Browser:
rs121908740
Molecular consequence:
NM_000022.2:c.631C>T: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_000022.2(ADA):c.631C>T (p.Arg211Cys)

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
2
Condition(s)
  • Severe combined immunodeficiency due to ADA deficiency[MedGen - OMIM]
  • Partial adenosine deaminase deficiency[MedGen]
See supporting ClinVar records

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Nov 15, 2012)
no assertion criteria providedliterature only
  • Partial adenosine deaminase deficiency[MedGen]
germlinePubMed (2)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000022201
not providedno assertion providedliterature only
  • Severe combined immunodeficiency due to ADA deficiency[MedGen | OMIM]
unknownUniProtKB/Swiss-Prot

(Apr 28, 2011)

SCV000090636
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, unknownnot providednot provided
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
UniProtKB/Swiss-Protnot providednot providedunknownnot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedPartial adenosine deaminase deficiency (not provided)not providednot providedPubMedIn 2 sisters with adult-onset ADA deficiency, Shovlin et al. (1994) identified compound heterozygosity for 2 mutations in the ADA gene. The paternal a…Full description
UniProtKB/Swiss-Protunknownnot providedSevere combined immunodeficiency due to ADA deficiency (not provided)not providednot providednot providednot provided

Last Updated: Jul 1, 2015