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NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe) AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:
Likely 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:
RCV004033846.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe)]

NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe)

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.404G>T (p.Cys135Phe)
HGVS:
  • NC_000017.11:g.58695189G>T
  • NG_023199.1:g.7588G>T
  • NG_047169.1:g.1891C>A
  • NM_002876.4:c.404G>T
  • NM_058216.3:c.404G>TMANE SELECT
  • NP_002867.1:p.Trp135Leu
  • NP_478123.1:p.Cys135Phe
  • LRG_314t1:c.404G>T
  • LRG_314:g.7588G>T
  • NC_000017.10:g.56772550G>T
  • NM_058216.1:c.404G>T
  • NM_058216.2:c.404G>T
  • NR_103872.2:n.446G>T
  • NR_103873.1:n.372G>T
Protein change:
C135F
Links:
dbSNP: rs767796996
NCBI 1000 Genomes Browser:
rs767796996
Molecular consequence:
  • NM_002876.4:c.404G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058216.3:c.404G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103872.2:n.446G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103873.1:n.372G>T - 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
SCV004931386Myriad Genetics, Inc.
criteria provided, single submitter

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

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.

Neidhardt G, Becker A, Hauke J, Horváth J, Bogdanova Markov N, Heilmann-Heimbach S, Hellebrand H, Thiele H, Altmüller J, Nürnberg P, Meindl A, Rhiem K, Blümcke B, Wappenschmidt B, Schmutzler RK, Hahnen E.

Eur J Cancer Prev. 2017 Mar;26(2):165-169. doi: 10.1097/CEJ.0000000000000240.

PubMed [citation]
PMID:
27622768

Details of each submission

From Myriad Genetics, Inc., SCV004931386.1

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

Description

This variant is considered likely pathogenic. mRNA analysis has demonstrated abnormal mRNA splicing occurs [PMID: 27622768].

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

Last Updated: Sep 29, 2024