NM_005732.4(RAD50):c.2165dup (p.Glu723fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000708625.2

Allele description [Variation Report for NM_005732.4(RAD50):c.2165dup (p.Glu723fs)]

NM_005732.4(RAD50):c.2165dup (p.Glu723fs)

Gene:
RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)
HGVS:
  • NC_000005.10:g.132595768dup
  • NG_021151.1:g.43845dup
  • NG_021151.2:g.43792dup
  • NM_005732.4:c.2165dupMANE SELECT
  • NP_005723.2:p.Glu723fs
  • LRG_312t1:c.2165dup
  • LRG_312:g.43792dup
  • LRG_312p1:p.Glu723fs
  • NC_000005.9:g.131931451_131931452insA
  • NC_000005.9:g.131931460dup
  • NM_005732.3:c.2165dupA
  • NM_005732.4:c.2157dupAMANE SELECT
  • p.E723Gfs*5
Protein change:
E723fs
Links:
dbSNP: rs397507178
NCBI 1000 Genomes Browser:
rs397507178
Molecular consequence:
  • NM_005732.4:c.2165dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000821773GeneKor MSAcriteria provided, single submitter
Pathogenic
(Jan 1, 2020)
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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneKor MSA, SCV000821773.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is a duplication of 1 nucleotide in exon 13 of RAD50 mRNA (c.2165dupA). causing a frameshift at codon 723. This creates a premature translational stop signal (p.Glu723Glyfs*5) and is expected to result in an absent or disrupted protein product. Truncating mutations in RAD50 are known to be pathogenic. The mutation database ClinVar contains an entry for this variant (Variation ID: 37377/).

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

Last Updated: Nov 27, 2021

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