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NM_058216.3(RAD51C):c.93del (p.Phe32fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 1, 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:
RCV000212931.8

Allele description [Variation Report for NM_058216.3(RAD51C):c.93del (p.Phe32fs)]

NM_058216.3(RAD51C):c.93del (p.Phe32fs)

Gene:
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
HGVS:
  • NC_000017.11:g.58692736del
  • NG_023199.1:g.5135del
  • NG_047169.1:g.4347del
  • NM_002876.4:c.93del
  • NM_058216.3:c.93delMANE SELECT
  • NP_002867.1:p.Phe32fs
  • NP_478123.1:p.Phe32fs
  • LRG_314t1:c.93del
  • LRG_314:g.5135del
  • NC_000017.10:g.56770094del
  • NC_000017.10:g.56770097del
  • NC_000017.10:g.56770097delG
  • NM_002876.2:c.93delG
  • NM_058216.1:c.93del
  • NM_058216.1:c.93delG
  • NM_058216.2:c.93delG
  • NR_103872.2:n.135del
  • p.F32SfsX8
  • p.G31GFS*9
Protein change:
F32fs
Links:
OMIM: 602774.0007; dbSNP: rs730881942
NCBI 1000 Genomes Browser:
rs730881942
Molecular consequence:
  • NM_002876.4:c.93del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058216.3:c.93del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103872.2:n.135del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211643GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 1, 2023) 		germlineclinical testing

Citation Link,

SCV001134795Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Jun 13, 2019) 		unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

RAD51C is a susceptibility gene for ovarian cancer.

Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomäki K, Bützow R, Nevanlinna H.

Hum Mol Genet. 2011 Aug 15;20(16):3278-88. doi: 10.1093/hmg/ddr229. Epub 2011 May 25.

PubMed [citation]
PMID:
21616938

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

Schrader KA, Cheng DT, Joseph V, Prasad M, Walsh M, Zehir A, Ni A, Thomas T, Benayed R, Ashraf A, Lincoln A, Arcila M, Stadler Z, Solit D, Hyman DM, Zhang L, Klimstra D, Ladanyi M, Offit K, Berger M, Robson M.

JAMA Oncol. 2016 Jan;2(1):104-11. doi: 10.1001/jamaoncol.2015.5208. Erratum in: JAMA Oncol. 2016 Feb;2(2):279. doi: 10.1001/jamaoncol.2015.6541. Hyman, David [corrected to Hyman, David M].

PubMed [citation]
PMID:
26556299
PMCID:
PMC5477989
See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000211643.17

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 23176254, 27806231, 25470109, 28152038, 21616938, 23117857, 24800917, 27433846, 26681312, 28874143, 28802053, 26556299, 26689913, 32107557, 34923718, 35053526, 35626031, 29922827, 28888541)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134795.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This frameshift variant causes the premature termination of RAD51C protein synthesis. In addition, it has been reported in affected individuals with breast, ovarian and prostate cancer in the published literature (PMIDs: 21616938 (2011), 24800917 (2014), 26556299 (2016), 26681312 (2015), and 27433846 (2016)). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Sep 29, 2024