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NM_002878.3(RAD51D):c.694C>T (p.Arg232Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 24, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000115819.8

Allele description

NM_002878.3(RAD51D):c.694C>T (p.Arg232Ter)

Genes:
RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RAD51L3-RFFL:RAD51L3-RFFL readthrough [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_002878.3(RAD51D):c.694C>T (p.Arg232Ter)
Other names:
p.R232*:CGA>TGA
HGVS:
  • NC_000017.11:g.35103298G>A
  • NG_031858.1:g.21572C>T
  • NM_002878.3:c.694C>T
  • NM_133629.2:c.358C>T
  • NP_002869.3:p.Arg232Ter
  • NP_598332.1:p.Arg120Ter
  • LRG_516t1:c.694C>T
  • LRG_516:g.21572C>T
  • LRG_516p1:p.Arg232Ter
  • NC_000017.10:g.33430317G>A
  • NR_037711.1:n.831C>T
  • p.Arg232Stop
  • p.R232*
Protein change:
R120*
Links:
dbSNP: rs587780104
NCBI 1000 Genomes Browser:
rs587780104
Allele Frequency:
0.00001(A)
Molecular consequence:
  • NR_037711.1:n.831C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_002878.3:c.694C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000185867Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))
Pathogenic
(Jan 24, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000292163Color
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 13, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

Gutiérrez-Enríquez S, Bonache S, de Garibay GR, Osorio A, Santamariña M, Ramón y Cajal T, Esteban-Cardeñosa E, Tenés A, Yanowsky K, Barroso A, Montalban G, Blanco A, Cornet M, Gadea N, Infante M, Caldés T, Díaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, et al.

Int J Cancer. 2014 May 1;134(9):2088-97.

PubMed [citation]
PMID:
24130102

Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

Wickramanayake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King MC, Swisher EM.

Gynecol Oncol. 2012 Dec;127(3):552-5. doi: 10.1016/j.ygyno.2012.09.009. Epub 2012 Sep 14. Erratum in: Gynecol Oncol. 2014 Jan;132(1):260. Wickramanyake, Anneka [corrected to Wickramanayake, Anneka].

PubMed [citation]
PMID:
22986143
PMCID:
PMC3905744
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000185867.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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

From Color, SCV000292163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 10, 2018