NM_058216.3(RAD51C):c.230del (p.Gly77fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 26, 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:: RCV001015159.4

Allele description [Variation Report for NM_058216.3(RAD51C):c.230del (p.Gly77fs)]

NM_058216.3(RAD51C):c.230del (p.Gly77fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_058216.3(RAD51C):c.230del (p.Gly77fs)

HGVS:

NC_000017.11:g.58695015del
NG_023199.1:g.7414del
NG_047169.1:g.2066del
NM_002876.4:c.230del
NM_058216.3:c.230delMANE SELECT
NP_002867.1:p.Gly77fs
NP_478123.1:p.Gly77fs
LRG_314t1:c.230del
LRG_314:g.7414del
NC_000017.10:g.56772376del
NM_058216.1:c.230del
NM_058216.1:c.230delG
NM_058216.3:c.230delGMANE SELECT
NR_103872.2:n.272del
NR_103873.1:n.198del

Protein change:

G77fs

Links:

LOVD 3: RAD51C_000003; OMIM: 602774.0006; dbSNP: rs1057519355

NCBI 1000 Genomes Browser:

rs1057519355

Molecular consequence:

NM_002876.4:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_058216.3:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103872.2:n.272del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_103873.1:n.198del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 3, non-coding RNA
gi|1239469540|ref|NR_149162.1|

Nucleotide
ANAPC16 (0)
MedGen
MIR107A [Equus caballus]
MIR107A [Equus caballus]
Gene ID:100315064

Gene
Chain B, DOUBLE HELIX CONFORMATION GROOVE DIMENSIONS AND LIGAND BINDING POTENTIA...
Chain B, DOUBLE HELIX CONFORMATION GROOVE DIMENSIONS AND LIGAND BINDING POTENTIAL OF A G/C-STRETCH IN B-DNA
gi|229743|pdb|1CGC|B

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001175966	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 26, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001175966

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 26, 2023)

germline

clinical testing

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

Citation Link

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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

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

Thompson ER, Boyle SE, Johnson J, Ryland GL, Sawyer S, Choong DY, kConFab, Chenevix-Trench G, Trainer AH, Lindeman GJ, Mitchell G, James PA, Campbell IG.

Hum Mutat. 2012 Jan;33(1):95-9. doi: 10.1002/humu.21625. Epub 2011 Nov 4.

PubMed [citation]

PMID:: 21990120

Details of each submission

From Ambry Genetics, SCV001175966.5

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

Description

The c.230delG pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 230, causing a translational frameshift with a predicted alternate stop codon (p.G77Vfs*24). This variant has been reported in a patient with high-grade serous ovarian cancer and metachronous breast cancer; her ovarian tumor showed loss of the wild type allele (Thompson ER et al. Hum. Mutat., 2012 Jan;33:95-9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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 15, 2024

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