NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2018
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:: RCV000663126.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)]

NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)

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.4C>G (p.Arg2Gly)

HGVS:

NC_000017.11:g.58692647C>G
NG_023199.1:g.5046C>G
NG_047169.1:g.4433G>C
NM_002876.4:c.4C>G
NM_058216.3:c.4C>GMANE SELECT
NP_002867.1:p.Arg2Gly
NP_478123.1:p.Arg2Gly
LRG_314t1:c.4C>G
LRG_314:g.5046C>G
NC_000017.10:g.56770008C>G
NM_058216.1:c.4C>G
NM_058216.2:c.4C>G
NR_103872.2:n.46C>G
NR_103873.1:n.75C>G

Protein change:

R2G

Links:

dbSNP: rs758029117

NCBI 1000 Genomes Browser:

rs758029117

Molecular consequence:

NM_002876.4:c.4C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_058216.3:c.4C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_103872.2:n.46C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.75C>G - 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

Recent activity

Clear Turn Off Turn On

Protein Links for Gene (Select 7052) (32)
Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000786260	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Mar 30, 2018)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28829762, 21597919 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000786260

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Mar 30, 2018)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

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

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

Gayarre J, Martín-Gimeno P, Osorio A, Paumard B, Barroso A, Fernández V, de la Hoya M, Rojo A, Caldés T, Palacios J, Urioste M, Benítez J, García MJ.

Br J Cancer. 2017 Sep 26;117(7):1048-1062. doi: 10.1038/bjc.2017.286. Epub 2017 Aug 22.

PubMed [citation]

PMID:: 28829762
PMCID:: PMC5625680

RAD51C germline mutations in Chinese women with familial breast cancer.

Pang Z, Yao L, Zhang J, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.

Breast Cancer Res Treat. 2011 Oct;129(3):1019-20. doi: 10.1007/s10549-011-1574-3. Epub 2011 May 20. No abstract available.

PubMed [citation]

PMID:: 21597919

Details of each submission

From Counsyl, SCV000786260.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine