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NM_001033855.1(DCLRE1C):c.241C>T (p.Arg81Ter) AND Severe combined immunodeficiency with sensitivity to ionizing radiation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2001
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:
RCV000004929.4

Allele description

NM_001033855.1(DCLRE1C):c.241C>T (p.Arg81Ter)

Gene:
DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001033855.1(DCLRE1C):c.241C>T (p.Arg81Ter)
HGVS:
  • NC_000010.11:g.14945110G>A
  • NG_007276.1:g.13986C>T
  • NM_001033855.1:c.241C>T
  • NM_001033855.2:c.241C>T
  • NM_001033857.2:c.-120C>T
  • NM_001289076.1:c.-44+3926C>T
  • NP_001029027.1:p.Arg81Ter
  • LRG_54t1:c.241C>T
  • LRG_54:g.13986C>T
  • LRG_54p1:p.Arg81Ter
  • NC_000010.10:g.14987109G>A
  • NR_110297.1:n.748C>T
Protein change:
R74*; ARG74TER
Links:
OMIM: 605988.0001; dbSNP: rs121908156
NCBI 1000 Genomes Browser:
rs121908156
Molecular consequence:
  • NM_001033857.2:c.-120C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001289076.1:c.-44+3926C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_110297.1:n.748C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001033855.2:c.241C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)
Identifiers:
MedGen: C1865370; Orphanet: 275; OMIM: 602450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025105OMIM
no assertion criteria provided
Pathogenic
(Apr 20, 2001) 		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

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP.

Cell. 2001 Apr 20;105(2):177-86.

PubMed [citation]
PMID:
11336668

Details of each submission

From OMIM, SCV000025105.3

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

Description

In 3 unrelated patients with severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID; 602450), Moshous et al. (2001) identified a C-to-T transition at nucleotide 279 of the Artemis gene, resulting in an arg74-to-ter (R74X) substitution. Patient P2 was homozygous for R74X, while patients P1 and P4 were compound heterozygous for R74X and a genomic deletion of exons 1 to 4 (605988.0002) and an exon 10 splice donor site mutation (605988.0005), respectively.

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

Last Updated: Aug 4, 2019