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NM_058216.3(RAD51C):c.73G>A (p.Val25Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2017
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:
RCV000590825.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.73G>A (p.Val25Met)]

NM_058216.3(RAD51C):c.73G>A (p.Val25Met)

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.73G>A (p.Val25Met)
HGVS:
  • NC_000017.11:g.58692716G>A
  • NG_023199.1:g.5115G>A
  • NG_047169.1:g.4364C>T
  • NM_002876.4:c.73G>A
  • NM_058216.3:c.73G>AMANE SELECT
  • NP_002867.1:p.Val25Met
  • NP_478123.1:p.Val25Met
  • LRG_314t1:c.73G>A
  • LRG_314:g.5115G>A
  • NC_000017.10:g.56770077G>A
  • NM_058216.1:c.73G>A
  • NM_058216.2:c.73G>A
  • NR_103872.2:n.115G>A
Protein change:
V25M
Links:
dbSNP: rs757116652
NCBI 1000 Genomes Browser:
rs757116652
Molecular consequence:
  • NM_002876.4:c.73G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058216.3:c.73G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103872.2:n.115G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699822Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 14, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699822.1

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

Description

Variant summary: The RAD51C c.73G>A (p.Val25Met) variant involves the alteration of a conserved nucleotide and 4/5 in silico tools predict a benign outcome. However, these predictions have yet to be functionally assessed. This variant was found in 1/121298 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic RAD51C variant (0.0000625). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance," until additional information becomes available.

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

Last Updated: Sep 29, 2024