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NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu) AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 8, 2024
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:
RCV003483906.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)]

NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)

Gene:
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)
HGVS:
  • NC_000017.11:g.58709863G>T
  • NG_023199.1:g.22262G>T
  • NM_058216.2:c.710G>T
  • NM_058216.3:c.710G>TMANE SELECT
  • NM_058217.1:c.*138G>T
  • NP_478123.1:p.Arg237Leu
  • NP_478123.1:p.Arg237Leu
  • LRG_314t1:c.710G>T
  • LRG_314:g.22262G>T
  • LRG_314p1:p.Arg237Leu
  • NC_000017.10:g.56787224G>T
  • NM_058216.1:c.710G>T
  • NR_103872.2:n.585G>T
Protein change:
R237L
Molecular consequence:
  • NM_058216.3:c.710G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103872.2:n.585G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 3
Synonyms:
RAD51C-Related Breast/Ovarian Cancer; Breast-ovarian cancer, familial 3
Identifiers:
MONDO: MONDO:0013253; MedGen: C3150659; Orphanet: 145; OMIM: 613399

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228246KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 8, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004228246.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 237 of the RAD51C protein (p.Arg237Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. In-silico simulation predictions show conflicting results. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024