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NM_058216.3(RAD51C):c.28A>T (p.Met10Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 26, 2023
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:
RCV003317287.8

Allele description [Variation Report for NM_058216.3(RAD51C):c.28A>T (p.Met10Leu)]

NM_058216.3(RAD51C):c.28A>T (p.Met10Leu)

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.28A>T (p.Met10Leu)
HGVS:
  • NC_000017.11:g.58692671A>T
  • NG_023199.1:g.5070A>T
  • NG_047169.1:g.4409T>A
  • NM_002876.4:c.28A>T
  • NM_058216.3:c.28A>TMANE SELECT
  • NP_002867.1:p.Met10Leu
  • NP_478123.1:p.Met10Leu
  • LRG_314t1:c.28A>T
  • LRG_314:g.5070A>T
  • NC_000017.10:g.56770032A>T
  • NM_058216.1:c.28A>T
  • NM_058216.2:c.28A>T
  • NR_103872.2:n.70A>T
  • NR_103873.1:n.99A>T
Protein change:
M10L
Links:
dbSNP: rs1452865935
NCBI 1000 Genomes Browser:
rs1452865935
Molecular consequence:
  • NM_002876.4:c.28A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058216.3:c.28A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103872.2:n.70A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103873.1:n.99A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699801Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 26, 2023) 		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 providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Bishop MR, Omeler-Fenaud SM, Huskey ALW, Merner ND.

PLoS One. 2020;15(8):e0238295. doi: 10.1371/journal.pone.0238295.

PubMed [citation]
PMID:
32866190
PMCID:
PMC7458311

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699801.2

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

Description

Variant summary: RAD51C c.28A>T (p.Met10Leu) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251448 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.28A>T has been reported in the literature as a VUS in a setting of multigene panel testing in an individual affected with breast cancer, suspected of a hereditary cancer syndrome (Bishop_2020). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32866190). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 26, 2024