NM_058216.3(RAD51C):c.774del (p.Thr259fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 14, 2017
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:: RCV000576452.3

Allele description [Variation Report for NM_058216.3(RAD51C):c.774del (p.Thr259fs)]

NM_058216.3(RAD51C):c.774del (p.Thr259fs)

Gene:

RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.774del (p.Thr259fs)

HGVS:

NC_000017.11:g.58709927del
NG_023199.1:g.22326del
NM_058216.3:c.774delMANE SELECT
NP_478123.1:p.Thr259fs
LRG_314t1:c.774del
LRG_314:g.22326del
NC_000017.10:g.56787288del
NM_058216.1:c.774del
NM_058216.1:c.774delT
NM_058216.2:c.774del
NM_058216.2:c.774delT
NM_058216.3:c.774delTMANE SELECT
NR_103872.2:n.649del

Protein change:

T259fs

Links:

dbSNP: rs754367349

NCBI 1000 Genomes Browser:

rs754367349

Molecular consequence:

NM_058216.3:c.774del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103872.2:n.649del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Name:: Fanconi anemia complementation group O
Identifiers:: MONDO: MONDO:0013248; MedGen: C3150653; Orphanet: 84; OMIM: 613390

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000677785	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Feb 14, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21750962, 26261251, 21537932 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000677785

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Pathogenic
(Feb 14, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.

Vuorela M, Pylkäs K, Hartikainen JM, Sundfeldt K, Lindblom A, von Wachenfeldt Wäppling A, Haanpää M, Puistola U, Rosengren A, Anttila M, Kosma VM, Mannermaa A, Winqvist R.

Breast Cancer Res Treat. 2011 Dec;130(3):1003-10. doi: 10.1007/s10549-011-1677-x. Epub 2011 Jul 13.

PubMed [citation]

PMID:: 21750962

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, et al.

J Clin Oncol. 2015 Sep 10;33(26):2901-7. doi: 10.1200/JCO.2015.61.2408. Epub 2015 Aug 10.

PubMed [citation]

PMID:: 26261251
PMCID:: PMC4554751

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000677785.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Mar 29, 2025

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