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NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter) AND Nijmegen breakage syndrome-like disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 21, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002257524.2

Allele description [Variation Report for NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter)]

NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter)

Genes:
RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
TH2LCRR:T helper type 2 locus control region associated RNA [Gene - HGNC]
TH2-LCR:Th2 cytokine locus control region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter)
HGVS:
  • NC_000005.10:g.132637179C>T
  • NG_021151.2:g.85203C>T
  • NG_042308.1:g.8017C>T
  • NM_005732.4:c.3454C>TMANE SELECT
  • NP_005723.2:p.Arg1152Ter
  • LRG_312t1:c.3454C>T
  • LRG_312:g.85203C>T
  • LRG_312p1:p.Arg1152Ter
  • NC_000005.9:g.131972871C>T
  • NG_021151.1:g.85256C>T
  • NM_005732.3:c.3454C>T
Protein change:
R1152*
Links:
dbSNP: rs745797941
NCBI 1000 Genomes Browser:
rs745797941
Molecular consequence:
  • NM_005732.4:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Nijmegen breakage syndrome-like disorder (NBSLD)
Synonyms:
MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY; NBS-LIKE DISORDER; RAD50 DEFICIENCY
Identifiers:
MONDO: MONDO:0013118; MedGen: C2751318; OMIM: 613078

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002538502Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)
Likely pathogenic
(Dec 21, 2021)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T.

Am J Hum Genet. 2009 May;84(5):605-16. doi: 10.1016/j.ajhg.2009.04.010. Epub 2009 Apr 30.

PubMed [citation]
PMID:
19409520
PMCID:
PMC2681000

Details of each submission

From Sema4, Sema4, SCV002538502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024