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NM_058216.3(RAD51C):c.571+5G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 25, 2024
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:
RCV004998416.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.571+5G>A]

NM_058216.3(RAD51C):c.571+5G>A

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.571+5G>A
HGVS:
  • NC_000017.11:g.58696864G>A
  • NG_023199.1:g.9263G>A
  • NG_047169.1:g.216C>T
  • NM_058216.3:c.571+5G>AMANE SELECT
  • LRG_314t1:c.571+5G>A
  • LRG_314:g.9263G>A
  • NC_000017.10:g.56774225G>A
  • NM_058216.1:c.571+5G>A
  • NM_058216.2:c.571+5G>A
Links:
dbSNP: rs145779113
NCBI 1000 Genomes Browser:
rs145779113
Molecular consequence:
  • NM_058216.3:c.571+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005623327Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		likely pathogenic
(Jun 25, 2024) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.

Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Llovet P, Díez-Gómez B, Caloca MJ, Pérez-Segura P, Fraile-Bethencourt E, Colmena M, Carvalho S, Allen J, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco EA.

Cancers (Basel). 2020 Dec 15;12(12). doi: 10.3390/cancers12123771.

PubMed [citation]
PMID:
33333735
PMCID:
PMC7765170

Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.

Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769.

PubMed [citation]
PMID:
30093976
PMCID:
PMC6078133
See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV005623327.1

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

Description

The RAD51C c.571+5G>A variant has been reported in the published literature in individuals with breast cancer (PMID: 21597919 (2011)), ovarian cancer (PMID: 30093976 (2018)), and uterine and colorectal cancer (PMID: 34326862 (2021)). In addition, this variant has been reported to result in aberrant RAD51C splicing (PMID: 33333735 (2020)). The frequency of this variant in the general population, 0.00035 (7/19952 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant may affect proper RAD51C mRNA splicing. Based on the available information, this variant is classified as likely pathogenic.

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

Last Updated: May 16, 2025