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NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) AND RAD51C-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 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:
RCV004532797.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)]

NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)

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.914G>A (p.Trp305Ter)
HGVS:
  • NC_000017.11:g.58724049G>A
  • NG_023199.1:g.36448G>A
  • NM_058216.3:c.914G>AMANE SELECT
  • NP_478123.1:p.Trp305Ter
  • LRG_314t1:c.914G>A
  • LRG_314:g.36448G>A
  • NC_000017.10:g.56801410G>A
  • NM_058216.1:c.914G>A
  • NM_058216.2:c.914G>A
  • NR_103872.2:n.789G>A
Protein change:
W305*
Links:
dbSNP: rs876659874
NCBI 1000 Genomes Browser:
rs876659874
Molecular consequence:
  • NR_103872.2:n.789G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_058216.3:c.914G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
RAD51C-related disorder
Synonyms:
RAD51C-Related Disorders; RAD51C-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004111974PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 1, 2023) 		germlineclinical testing

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

Help

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 PreventionGenetics, part of Exact Sciences, SCV004111974.1

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

Description

The RAD51C c.914G>A variant is predicted to result in premature protein termination (p.Trp305*). This variant was reported in individuals with ovarian cancer (Supplemental Table 1, Carter et al 2018. PubMed ID: 30322717) and breast cancer (Supplementary Table 3, Palmer et al 2020. PubMed ID: 32427313; Table 1, Bagherzadeh et al 2020. PubMed ID: 32809180). This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-56801410-G-A). This variant is interpreted as pathogenic by several laboratories in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/232614/). Nonsense variants in RAD51C are expected to be pathogenic (Meindl et al 2010. PubMed ID: 20400964). Taken together, this variant is interpreted as pathogenic.

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

Last Updated: Nov 3, 2024