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NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 19, 2020
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:
RCV002355089.2

Allele description [Variation Report for NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)]

NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)

Gene:
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs)
HGVS:
  • NC_000017.11:g.58695164_58695165insG
  • NG_023199.1:g.7563_7564insG
  • NG_047169.1:g.1915_1916insC
  • NM_002876.4:c.379_380insG
  • NM_058216.3:c.379_380insGMANE SELECT
  • NP_002867.1:p.Pro127fs
  • NP_478123.1:p.Pro127fs
  • LRG_314:g.7563_7564insG
  • NC_000017.10:g.56772525_56772526insG
  • NM_058216.1:c.379_380insG
  • NM_058216.2:c.379_380insG
  • NR_103872.2:n.421_422insG
  • NR_103873.1:n.347_348insG
Protein change:
P127fs
Links:
dbSNP: rs2047958236
NCBI 1000 Genomes Browser:
rs2047958236
Molecular consequence:
  • NM_002876.4:c.379_380insG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058216.3:c.379_380insG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103872.2:n.421_422insG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103873.1:n.347_348insG - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002622695Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 19, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.

Janatova M, Soukupova J, Stribrna J, Kleiblova P, Vocka M, Boudova P, Kleibl Z, Pohlreich P.

PLoS One. 2015;10(6):e0127711. doi: 10.1371/journal.pone.0127711.

PubMed [citation]
PMID:
26057125
PMCID:
PMC4461297

Details of each submission

From Ambry Genetics, SCV002622695.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.379_380insG pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from an insertion of one nucleotide at position 379, causing a translational frameshift with a predicted alternate stop codon (p.P127Rfs*28). This alteration was identified in a high-risk BRCA1/BRCA2 negative individual diagnosed with ovarian cancer (Janatova M et al. PLoS ONE, 2015 Jun;10:e0127711). In addition to the clinical data presented in the literature, 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024