NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) AND Nijmegen breakage syndrome-like disorder

Clinical significance:Uncertain significance (Last evaluated: Jul 9, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410140.1

Allele description [Variation Report for NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)]

NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)

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.2840T>C (p.Ile947Thr)
Other names:
p.I947T:ATT>ACT
HGVS:
  • NC_000005.10:g.132609127T>C
  • NG_021151.1:g.57204T>C
  • NG_021151.2:g.57151T>C
  • NM_005732.4:c.2840T>CMANE SELECT
  • NP_005723.2:p.Ile947Thr
  • LRG_312t1:c.2840T>C
  • LRG_312:g.57151T>C
  • LRG_312p1:p.Ile947Thr
  • NC_000005.9:g.131944819T>C
  • NM_005732.3:c.2840T>C
  • p.I947T
Protein change:
I947T
Links:
dbSNP: rs150401251
NCBI 1000 Genomes Browser:
rs150401251
Molecular consequence:
  • NM_005732.4:c.2840T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000488874Counsylcriteria provided, single submitter
Uncertain significance
(Jul 9, 2016)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]
PMID:
26689913
PMCID:
PMC4703835

Details of each submission

From Counsyl, SCV000488874.1

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

Last Updated: Oct 7, 2021

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