NM_005732.4(RAD50):c.2472T>G (p.Thr824=) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781779.2

Allele description [Variation Report for NM_005732.4(RAD50):c.2472T>G (p.Thr824=)]

NM_005732.4(RAD50):c.2472T>G (p.Thr824=)

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.2472T>G (p.Thr824=)
HGVS:
  • NC_000005.10:g.132603994T>G
  • NG_021151.1:g.52071T>G
  • NG_021151.2:g.52018T>G
  • NM_005732.4:c.2472T>GMANE SELECT
  • NP_005723.2:p.Thr824=
  • LRG_312t1:c.2472T>G
  • LRG_312:g.52018T>G
  • LRG_312p1:p.Thr824=
  • NC_000005.9:g.131939686T>G
  • NM_005732.3:c.2472T>G
Links:
dbSNP: rs1358470664
NCBI 1000 Genomes Browser:
rs1358470664
Molecular consequence:
  • NM_005732.4:c.2472T>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000920104Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Aug 29, 2019)
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, SCV000920104.2

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

Last Updated: Jun 14, 2021

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