NM_005732.4(RAD50):c.2472T>G (p.Thr824=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Sep 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000632269.1

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)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000753441Invitaecriteria provided, single submitter
Likely benign
(Sep 18, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000753441.1

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

Last Updated: Jun 14, 2021

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