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NM_058216.3(RAD51C):c.353_356del (p.Met118fs) AND Fanconi anemia complementation group O

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 6, 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:
RCV003617473.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.353_356del (p.Met118fs)]

NM_058216.3(RAD51C):c.353_356del (p.Met118fs)

Gene:
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.353_356del (p.Met118fs)
HGVS:
  • NC_000017.11:g.58695138_58695141del
  • NG_023199.1:g.7537_7540del
  • NG_047169.1:g.1941_1944del
  • NM_002876.4:c.353_356del
  • NM_058216.3:c.353_356delMANE SELECT
  • NM_058217.1:c.353_356delTGAA
  • NP_002867.1:p.Met118fs
  • NP_478123.1:p.Met118Lysfs
  • NP_478123.1:p.Met118fs
  • NP_478124.1:p.Met118Lysfs
  • LRG_314t1:c.353_356del
  • LRG_314:g.7537_7540del
  • LRG_314p1:p.Met118Lysfs
  • NC_000017.10:g.56772497_56772500del
  • NC_000017.10:g.56772499_56772502del
  • NM_058216.1:c.353_356delTGAA
  • NR_103872.2:n.395_398del
  • NR_103873.1:n.321_324del
Protein change:
M118fs
Molecular consequence:
  • NM_002876.4:c.353_356del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058216.3:c.353_356del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058217.1:c.353_356delTGAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103872.2:n.395_398del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103873.1:n.321_324del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004451637Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 6, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

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 (4)

Details of each submission

From Invitae, SCV004451637.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Met118Lysfs*22) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Feb 28, 2024