NM_005732.4(RAD50):c.561dup (p.Ala188fs) AND Nijmegen breakage syndrome-like disorder

Clinical significance:Likely pathogenic (Last evaluated: Oct 26, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411533.1

Allele description [Variation Report for NM_005732.4(RAD50):c.561dup (p.Ala188fs)]

NM_005732.4(RAD50):c.561dup (p.Ala188fs)

Gene:
RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_005732.4(RAD50):c.561dup (p.Ala188fs)
HGVS:
  • NC_000005.10:g.132579871dup
  • NG_021151.1:g.27948dup
  • NG_021151.2:g.27895dup
  • NM_005732.4:c.561dupMANE SELECT
  • NP_005723.2:p.Ala188fs
  • LRG_312t1:c.561dup
  • LRG_312:g.27895dup
  • LRG_312p1:p.Ala188fs
  • NC_000005.9:g.131915560_131915561insA
  • NC_000005.9:g.131915563dup
  • NM_005732.3:c.561dup
  • NM_005732.3:c.561dupA
Protein change:
A188fs
Links:
dbSNP: rs876659005
NCBI 1000 Genomes Browser:
rs876659005
Molecular consequence:
  • NM_005732.4:c.561dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000489565Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 26, 2016)
unknownclinical testing

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

Details of each submission

From Counsyl, SCV000489565.1

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

Last Updated: Oct 7, 2021

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