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NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 23, 2022
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:
RCV003477703.1

Allele description [Variation Report for NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)]

NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)

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.1875C>G (p.Tyr625Ter)
HGVS:
  • NC_000005.10:g.132594950C>G
  • NG_021151.2:g.42974C>G
  • NM_005732.4:c.1875C>GMANE SELECT
  • NP_005723.2:p.Tyr625Ter
  • LRG_312t1:c.1875C>G
  • LRG_312:g.42974C>G
  • LRG_312p1:p.Tyr625Ter
  • NC_000005.9:g.131930642C>G
  • NG_021151.1:g.43027C>G
  • NM_005732.3:c.1875C>G
Protein change:
Y625*
Links:
dbSNP: rs149201802
NCBI 1000 Genomes Browser:
rs149201802
Molecular consequence:
  • NM_005732.4:c.1875C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004219295Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Nov 23, 2022) 		unknownclinical testing

PubMed (5)
[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

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, et al.

BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.

PubMed [citation]
PMID:
31159747
PMCID:
PMC6547505

Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.

Yurgelun MB, Chittenden AB, Morales-Oyarvide V, Rubinson DA, Dunne RF, Kozak MM, Qian ZR, Welch MW, Brais LK, Da Silva A, Bui JL, Yuan C, Li T, Li W, Masuda A, Gu M, Bullock AJ, Chang DT, Clancy TE, Linehan DC, Findeis-Hosey JJ, Doyle LA, et al.

Genet Med. 2019 Jan;21(1):213-223. doi: 10.1038/s41436-018-0009-5. Epub 2018 Jul 2.

PubMed [citation]
PMID:
29961768
PMCID:
PMC6666401
See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This nonsense variant causes the premature termination of RAD50 protein synthesis. The frequency of this variant in the general population, 0.00056 (20/35426 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals with breast cancer (PMID: 25452441 (2015)) and pancreatic cancer (PMID: 29961768 (2019)). It has also been reported in an individual with personal and/or family history of breast and/or ovarian cancer (PMID:31159747 (2019)). 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