NM_005732.4(RAD50):c.204C>T (p.His68=) AND Nijmegen breakage syndrome-like disorder

Clinical significance:Likely benign (Last evaluated: Mar 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000663116.1

Allele description [Variation Report for NM_005732.4(RAD50):c.204C>T (p.His68=)]

NM_005732.4(RAD50):c.204C>T (p.His68=)

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.204C>T (p.His68=)
HGVS:
  • NC_000005.10:g.132559358C>T
  • NG_021151.1:g.7435C>T
  • NG_021151.2:g.7382C>T
  • NM_005732.4:c.204C>TMANE SELECT
  • NP_005723.2:p.His68=
  • LRG_312t1:c.204C>T
  • LRG_312:g.7382C>T
  • LRG_312p1:p.His68=
  • NC_000005.9:g.131895050C>T
  • NM_005732.3:c.204C>T
  • p.H68H
Links:
dbSNP: rs28903084
NCBI 1000 Genomes Browser:
rs28903084
Molecular consequence:
  • NM_005732.4:c.204C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000786245Counsylcriteria provided, single submitter
Likely benign
(Mar 26, 2018)
unknownclinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.

Heikkinen K, Karppinen SM, Soini Y, Mäkinen M, Winqvist R.

J Med Genet. 2003 Dec;40(12):e131. No abstract available.

PubMed [citation]
PMID:
14684699
PMCID:
PMC1735331

Evaluation of RAD50 in familial breast cancer predisposition.

Tommiska J, Seal S, Renwick A, Barfoot R, Baskcomb L, Jayatilake H, Bartkova J, Tallila J, Kaare M, Tamminen A, Heikkilä P, Evans DG, Eccles D, Aittomäki K, Blomqvist C, Bartek J, Stratton MR, Nevanlinna H, Rahman N.

Int J Cancer. 2006 Jun 1;118(11):2911-6.

PubMed [citation]
PMID:
16385572

Details of each submission

From Counsyl, SCV000786245.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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