NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln) AND not specified

Clinical significance:Likely benign (Last evaluated: Nov 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781778.1

Allele description [Variation Report for NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln)]

NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln)

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.2468G>A (p.Arg823Gln)
HGVS:
  • NC_000005.10:g.132603990G>A
  • NG_021151.1:g.52067G>A
  • NG_021151.2:g.52014G>A
  • NM_005732.4:c.2468G>AMANE SELECT
  • NP_005723.2:p.Arg823Gln
  • LRG_312t1:c.2468G>A
  • LRG_312:g.52014G>A
  • LRG_312p1:p.Arg823Gln
  • NC_000005.9:g.131939682G>A
  • NM_005732.3:c.2468G>A
Protein change:
R823Q
Links:
dbSNP: rs572533256
NCBI 1000 Genomes Browser:
rs572533256
Molecular consequence:
  • NM_005732.4:c.2468G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000920103Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Nov 24, 2017)
germlineclinical testing

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, SCV000920103.1

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

Description

Variant summary: The RAD50 c.2468G>A (p.Arg823Gln) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 21/276876 control chromosomes, predominantly observed in the South Asian subpopulation at a frequency of 0.000552 (17/30772). This frequency is about 9 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. One clinical diagnostic laboratory/reputable database classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.

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

Last Updated: Jun 14, 2021

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