NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Uncertain significance (Last evaluated: Jul 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000709437.1

Allele description [Variation Report for NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)]

NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)

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_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
HGVS:
  • NC_000017.11:g.35103277G>A
  • NG_031858.1:g.21593C>T
  • NM_001142571.2:c.775C>T
  • NM_002878.3:c.715C>T
  • NM_002878.4:c.715C>TMANE SELECT
  • NM_133629.3:c.379C>T
  • NP_001136043.1:p.Arg259Trp
  • NP_002869.3:p.Arg239Trp
  • NP_002869.3:p.Arg239Trp
  • NP_598332.1:p.Arg127Trp
  • LRG_516t1:c.715C>T
  • LRG_516:g.21593C>T
  • LRG_516p1:p.Arg239Trp
  • NC_000017.10:g.33430296G>A
  • NR_037711.2:n.741C>T
  • NR_037712.2:n.606C>T
  • NR_037714.1:n.467C>T
  • p.R239W
Protein change:
R127W
Links:
dbSNP: rs770250516
NCBI 1000 Genomes Browser:
rs770250516
Molecular consequence:
  • NM_001142571.2:c.775C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002878.3:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002878.4:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133629.3:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037711.2:n.741C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037712.2:n.606C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037714.1:n.467C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000839179Mendelicscriteria provided, single submitter
Uncertain significance
(Jul 2, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV000839179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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