NM_058216.3(RAD51C):c.335G>T (p.Gly112Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 2021
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:: RCV000589409.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.335G>T (p.Gly112Val)]

NM_058216.3(RAD51C):c.335G>T (p.Gly112Val)

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.335G>T (p.Gly112Val)

HGVS:

NC_000017.11:g.58695120G>T
NG_023199.1:g.7519G>T
NG_047169.1:g.1960C>A
NM_002876.4:c.335G>T
NM_058216.3:c.335G>TMANE SELECT
NP_002867.1:p.Gly112Val
NP_478123.1:p.Gly112Val
LRG_314t1:c.335G>T
LRG_314:g.7519G>T
NC_000017.10:g.56772481G>T
NM_058216.1:c.335G>T
NM_058216.2:c.335G>T
NR_103872.2:n.377G>T
NR_103873.1:n.303G>T

Protein change:

G112V

Links:

dbSNP: rs370212314

NCBI 1000 Genomes Browser:

rs370212314

Molecular consequence:

NM_002876.4:c.335G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_058216.3:c.335G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_103872.2:n.377G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.303G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

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
SCV000699804	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Feb 15, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26261251, 28829762 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000699804

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Feb 15, 2021)

germline

clinical testing

PubMed (2)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699804.1

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

Description

Variant summary: RAD51C c.335G>T (p.Gly112Val) results in a non-conservative amino acid change located in the DNA recombination and repair protein Rad51-like, C-terminal domain (IPR013632) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 256840 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.335G>T has been reported in the literature in at least one individual affected with ovarian cancer (e.g. Song_2015). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One other clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine