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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RecName: Full=Bone morphogenetic protein 6; Short=BMP-6; AltName: Full=VG-1-rela...
RecName: Full=Bone morphogenetic protein 6; Short=BMP-6; AltName: Full=VG-1-related protein; Short=VG-1-R; Short=VGR-1; Flags: Precursor
gi|115076|sp|P22004.1|BMP6_HUMAN

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004111974	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 1, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004111974

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 1, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 23, 2024

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Relating variation to medicine