NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000212922.2

Allele description [Variation Report for NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)]

NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)

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.2840T>C (p.Ile947Thr)
Other names:
p.I947T:ATT>ACT
HGVS:
  • NC_000005.10:g.132609127T>C
  • NG_021151.1:g.57204T>C
  • NG_021151.2:g.57151T>C
  • NM_005732.4:c.2840T>CMANE SELECT
  • NP_005723.2:p.Ile947Thr
  • LRG_312t1:c.2840T>C
  • LRG_312:g.57151T>C
  • LRG_312p1:p.Ile947Thr
  • NC_000005.9:g.131944819T>C
  • NM_005732.3:c.2840T>C
  • p.I947T
Protein change:
I947T
Links:
dbSNP: rs150401251
NCBI 1000 Genomes Browser:
rs150401251
Molecular consequence:
  • NM_005732.4:c.2840T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000149858GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 19, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000149858.13

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

Description

RAD50 has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted RAD50 c.2840T>C at the cDNA level, p.Ile947Thr (I947T) at the protein level, and results in the change of an Isoleucine to a Threonine (ATT>ACT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD50 Ile947Thr was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Isoleucine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution and is likely to affect protein integrity. RAD50 Ile947Thr occurs at a position that is well conserved across species and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. On a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and the RAD50 gene, remain unclear.

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

Last Updated: Oct 8, 2021

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