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NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 14, 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:
RCV001010939.2

Allele description [Variation Report for NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)]

NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)

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.133G>T (p.Glu45Ter)
HGVS:
  • NC_000017.11:g.58692776G>T
  • NG_023199.1:g.5175G>T
  • NG_047169.1:g.4304C>A
  • NM_002876.4:c.133G>T
  • NM_058216.3:c.133G>TMANE SELECT
  • NP_002867.1:p.Glu45Ter
  • NP_478123.1:p.Glu45Ter
  • LRG_314t1:c.133G>T
  • LRG_314:g.5175G>T
  • NC_000017.10:g.56770137G>T
  • NC_000017.10:g.56770137G>T
  • NM_058216.1:c.133G>T
  • NR_103872.2:n.175G>T
Protein change:
E45*
Links:
dbSNP: rs1598449660
NCBI 1000 Genomes Browser:
rs1598449660
Molecular consequence:
  • NR_103872.2:n.175G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_002876.4:c.133G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_058216.3:c.133G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001171204Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Jan 14, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, et al.

NPJ Breast Cancer. 2020;6:25. doi: 10.1038/s41523-020-0163-1.

PubMed [citation]
PMID:
32566746
PMCID:
PMC7293299

Details of each submission

From Ambry Genetics, SCV001171204.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.E45* pathogenic mutation (also known as c.133G>T), located in coding exon 1 of the RAD51C gene, results from a G to T substitution at nucleotide position 133. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This alteration was seen in a Japanese patient with unilateral breast cancer (Kaneyasu T et al. NPJ Breast Cancer, 2020 Jun;6:25). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024