NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) AND Nijmegen breakage syndrome-like disorder

Clinical significance:Likely pathogenic (Last evaluated: Jul 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000006230.4

Allele description [Variation Report for NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)]

NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)

Gene:
RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)
HGVS:
  • NC_000005.10:g.132618182C>T
  • NG_021151.1:g.66259C>T
  • NG_021151.2:g.66206C>T
  • NM_005732.4:c.3277C>TMANE SELECT
  • NP_005723.2:p.Arg1093Ter
  • LRG_312t1:c.3277C>T
  • LRG_312:g.66206C>T
  • LRG_312p1:p.Arg1093Ter
  • NC_000005.9:g.131953874C>T
  • NM_005732.3:c.3277C>T
Protein change:
R1093*; ARG1093TER
Links:
OMIM: 604040.0001; dbSNP: rs121912628
NCBI 1000 Genomes Browser:
rs121912628
Molecular consequence:
  • NM_005732.4:c.3277C>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
SCV000026412OMIMno assertion criteria providedPathogenic
(May 1, 2009)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000785384Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 19, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV002019628PerkinElmer Genomicsno assertion criteria providedPathogenic
(Sep 17, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child.

Barbi G, Scheres JM, Schindler D, Taalman RD, Rodens K, Mehnert K, Müller M, Seyschab H.

Am J Med Genet. 1991 Jul 1;40(1):44-50.

PubMed [citation]
PMID:
1887849

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
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000026412.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a patient with Nijmegen breakage syndrome-like disorder (NBSLD; 613078), who was previously reported by Barbi et al. (1991), Waltes et al. (2009) identified compound heterozygosity for mutations in the RAD50 gene. The maternal allele carried a C-to-T transition at nucleotide 3277 in exon 21 of the RAD50 gene, resulting in an arg-to-stop substitution at codon 1093 (R1093X). The paternal allele carried a point mutation resulting in a 66-amino acid extension of the protein (604040.0002). This mutation was associated with undetectable RNA and protein and was not identified in 350 German chromosomes.

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

From Counsyl, SCV000785384.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From PerkinElmer Genomics, SCV002019628.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 28, 2021

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