U.S. flag

An official website of the United States government

NM_058216.3(RAD51C):c.716T>A (p.Val239Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 2016
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:
RCV000478142.1

Allele description [Variation Report for NM_058216.3(RAD51C):c.716T>A (p.Val239Glu)]

NM_058216.3(RAD51C):c.716T>A (p.Val239Glu)

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.716T>A (p.Val239Glu)
HGVS:
  • NC_000017.11:g.58709869T>A
  • NG_023199.1:g.22268T>A
  • NM_058216.3:c.716T>AMANE SELECT
  • NP_478123.1:p.Val239Glu
  • LRG_314t1:c.716T>A
  • LRG_314:g.22268T>A
  • NC_000017.10:g.56787230T>A
  • NM_058216.1:c.716T>A
  • NM_058216.2:c.716T>A
  • NR_103872.2:n.591T>A
Protein change:
V239E
Links:
dbSNP: rs1064795220
NCBI 1000 Genomes Browser:
rs1064795220
Molecular consequence:
  • NM_058216.3:c.716T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103872.2:n.591T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570831GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 1, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000570831.4

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

Description

This variant is denoted RAD51C c.716T>A at the cDNA level, p.Val239Glu (V239E) at the protein level, and results in the change of a Valine to a Glutamic Acid (GTG>GAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51C Val239Glu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Valine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. RAD51C Val239Glu occurs at a position where amino acids with properties similar to Valine are tolerated across species and is located in Walker B box in the ATP binding motif (Miller 2004). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether RAD51C Val239Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024