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NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs) AND RAD51C-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 7, 2022
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:
RCV004536050.2

Allele description [Variation Report for NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)]

NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)

Gene:
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
HGVS:
  • NC_000017.11:g.58695007AT[3]
  • NC_000017.11:g.58695007_58695008AT[3]
  • NG_023199.1:g.7406AT[3]
  • NG_047169.1:g.2070AT[3]
  • NM_002876.4:c.224_225dup
  • NM_058216.3:c.224_225dupMANE SELECT
  • NP_002867.1:p.Ala76fs
  • NP_478123.1:p.Ala76fs
  • LRG_314t1:c.224_225dup
  • LRG_314:g.7406AT[3]
  • NC_000017.10:g.56772367_56772368insAT
  • NC_000017.10:g.56772368AT[3]
  • NM_058216.1:c.224_225dupAT
  • NM_058216.2:c.224_225dup
  • NM_058216.2:c.224_225dupAT
  • NR_103872.2:n.264AT[3]
  • NR_103873.1:n.190AT[3]
Protein change:
A76fs
Links:
dbSNP: rs1598455598
NCBI 1000 Genomes Browser:
rs1598455598
Molecular consequence:
  • NM_002876.4:c.224_225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058216.3:c.224_225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103872.2:n.264AT[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103873.1:n.190AT[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
RAD51C-related disorder
Synonyms:
RAD51C-Related Disorders; RAD51C-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004121529PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 7, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004121529.1

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

Description

The RAD51C c.224_225dupAT variant is predicted to result in a frameshift and premature protein termination (p.Ala76Metfs*26). This variant was reported in an individual with ovarian cancer (Suszynska et al. 2020. PubMed ID: 32359370). It is documented in the ClinVar database with classifications of pathogenic and likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/820944/evidence/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in RAD51C are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 24, 2024