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NM_058216.3(RAD51C):c.81G>A (p.Leu27=) AND Malignant tumor of breast

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001354640.2

Allele description [Variation Report for NM_058216.3(RAD51C):c.81G>A (p.Leu27=)]

NM_058216.3(RAD51C):c.81G>A (p.Leu27=)

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.81G>A (p.Leu27=)
HGVS:
  • NC_000017.11:g.58692724G>A
  • NG_023199.1:g.5123G>A
  • NG_047169.1:g.4356C>T
  • NM_002876.4:c.81G>A
  • NM_058216.3:c.81G>AMANE SELECT
  • NP_002867.1:p.Leu27=
  • NP_478123.1:p.Leu27=
  • LRG_314:g.5123G>A
  • NC_000017.10:g.56770085G>A
  • NR_103872.2:n.123G>A
Links:
dbSNP: rs1311969744
NCBI 1000 Genomes Browser:
rs1311969744
Molecular consequence:
  • NR_103872.2:n.123G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_002876.4:c.81G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_058216.3:c.81G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001549304Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

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Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001549304.1

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

Description

The RAD51C p.Leu27= variant was not identified in the literature nor was it identified in dbSNP, ClinVar, or LOVD 3.0. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Leu27= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Feb 20, 2024