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NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) AND Fanconi anemia complementation group O

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 18, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000541903.11

Allele description [Variation Report for NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)]

NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)

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.914G>A (p.Trp305Ter)
HGVS:
  • NC_000017.11:g.58724049G>A
  • NG_023199.1:g.36448G>A
  • NM_058216.3:c.914G>AMANE SELECT
  • NP_478123.1:p.Trp305Ter
  • LRG_314t1:c.914G>A
  • LRG_314:g.36448G>A
  • NC_000017.10:g.56801410G>A
  • NM_058216.1:c.914G>A
  • NM_058216.2:c.914G>A
  • NR_103872.2:n.789G>A
Protein change:
W305*
Links:
dbSNP: rs876659874
NCBI 1000 Genomes Browser:
rs876659874
Molecular consequence:
  • NR_103872.2:n.789G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_058216.3:c.914G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000660370Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Sep 18, 2023)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002019630Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 14, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, et al.

Nat Genet. 2010 May;42(5):410-4. doi: 10.1038/ng.569. Epub 2010 Apr 18.

PubMed [citation]
PMID:
20400964

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
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000660370.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 232614). This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp305*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917, 29278735).

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

From Revvity Omics, Revvity, SCV002019630.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024