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NM_058216.3(RAD51C):c.158_160delinsTT (p.Ser53fs) AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 2, 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:
RCV004033018.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.158_160delinsTT (p.Ser53fs)]

NM_058216.3(RAD51C):c.158_160delinsTT (p.Ser53fs)

Gene:
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.158_160delinsTT (p.Ser53fs)
HGVS:
  • NC_000017.11:g.58694943_58694945delinsTT
  • NG_023199.1:g.7342_7344delinsTT
  • NG_047169.1:g.2135_2137delinsAA
  • NM_002876.4:c.158_160delinsTT
  • NM_058216.3:c.158_160delinsTTMANE SELECT
  • NP_002867.1:p.Ser53fs
  • NP_478123.1:p.Ser53fs
  • LRG_314t1:c.158_160delCTAinsTT
  • LRG_314:g.7342_7344delinsTT
  • NC_000017.10:g.56772304_56772306delinsTT
  • NM_058216.1:c.158_160delCTAinsTT
  • NM_058216.2:c.158_160delinsTT
  • NR_103872.2:n.200_202delinsTT
  • NR_103873.1:n.126_128delinsTT
Protein change:
S53fs
Links:
dbSNP: rs2047940629
NCBI 1000 Genomes Browser:
rs2047940629
Molecular consequence:
  • NM_002876.4:c.158_160delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_058216.3:c.158_160delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103872.2:n.200_202delinsTT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103873.1:n.126_128delinsTT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 3
Synonyms:
RAD51C-Related Breast/Ovarian Cancer; Breast-ovarian cancer, familial 3
Identifiers:
MONDO: MONDO:0013253; MedGen: C3150659; Orphanet: 145; OMIM: 613399

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004933330Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jan 2, 2024) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004933330.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: May 7, 2024