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NM_005732.4(RAD50):c.1722dup (p.Gln575fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003477555.1

Allele description [Variation Report for NM_005732.4(RAD50):c.1722dup (p.Gln575fs)]

NM_005732.4(RAD50):c.1722dup (p.Gln575fs)

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.1722dup (p.Gln575fs)
HGVS:
  • NC_000005.10:g.132591963dup
  • NG_021151.2:g.39987dup
  • NM_005732.4:c.1722dupMANE SELECT
  • NP_005723.2:p.Gln575fs
  • LRG_312t1:c.1722dup
  • LRG_312:g.39987dup
  • LRG_312p1:p.Gln575fs
  • NC_000005.9:g.131927649_131927650insA
  • NC_000005.9:g.131927655dup
  • NG_021151.1:g.40040dup
  • NM_005732.3:c.1722dup
  • NM_005732.3:c.1722dupA
  • NM_005732.4:c.1722dupAMANE SELECT
Protein change:
Q575fs
Links:
dbSNP: rs587782543
NCBI 1000 Genomes Browser:
rs587782543
Molecular consequence:
  • NM_005732.4:c.1722dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004219290Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Jan 10, 2023) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E.

Genet Med. 2014 Nov;16(11):830-7. doi: 10.1038/gim.2014.40. Epub 2014 Apr 24.

PubMed [citation]
PMID:
24763289
PMCID:
PMC4225457

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM.

PLoS Genet. 2019 Oct;15(10):e1008409. doi: 10.1371/journal.pgen.1008409.

PubMed [citation]
PMID:
31589614
PMCID:
PMC6797235
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219290.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This frameshift variant alters the translational reading frame of the RAD50 mRNA and causes the premature termination of RAD50 protein synthesis. The frequency of this variant in the general population, 0.000004 (1/251222 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in an individual undergoing hereditary cancer predisposition testing (PMID: 24763289 (2014)). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Sep 29, 2024