NM_005732.4(RAD50):c.2922+1G>A AND Breast and/or ovarian cancer

Clinical significance:Likely pathogenic (Last evaluated: Jun 11, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001271001.1

Allele description [Variation Report for NM_005732.4(RAD50):c.2922+1G>A]

NM_005732.4(RAD50):c.2922+1G>A

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.2922+1G>A
HGVS:
  • NC_000005.10:g.132609210G>A
  • NG_021151.1:g.57287G>A
  • NG_021151.2:g.57234G>A
  • NM_005732.4:c.2922+1G>AMANE SELECT
  • LRG_312t1:c.2922+1G>A
  • LRG_312:g.57234G>A
  • NC_000005.9:g.131944902G>A
  • NM_005732.3:c.2922+1G>A
Links:
dbSNP: rs1581004749
NCBI 1000 Genomes Browser:
rs1581004749
Molecular consequence:
  • NM_005732.4:c.2922+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
2

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001451813CZECANCA consortiumno assertion criteria providedLikely pathogenic
(Jun 11, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Slavicgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]
PMID:
32295079
PMCID:
PMC7226062

Details of each submission

From CZECANCA consortium, SCV001451813.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jan 25, 2021

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