NM_005732.4(RAD50):c.1636-9del AND not provided

Clinical significance:Benign (Last evaluated: May 24, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000588305.1

Allele description [Variation Report for NM_005732.4(RAD50):c.1636-9del]

NM_005732.4(RAD50):c.1636-9del

Gene:
RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_005732.4(RAD50):c.1636-9del
HGVS:
  • NC_000005.10:g.132591868del
  • NG_021151.1:g.39945del
  • NG_021151.2:g.39892del
  • NM_005732.4:c.1636-9delMANE SELECT
  • LRG_312t1:c.1636-9del
  • LRG_312:g.39892del
  • NC_000005.9:g.131927560del
  • NM_005732.3:c.1636-9delT
  • NM_005732.3:c.1636-9delT
Links:
dbSNP: rs762814289
NCBI 1000 Genomes Browser:
rs762814289
Molecular consequence:
  • NM_005732.4:c.1636-9del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000698641Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(May 24, 2016)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The RAD50 c.1636-9delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1862/79398 control chromosomes at a frequency of 0.0234515, which is approximately 375 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.

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

Last Updated: Jun 14, 2021

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