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NM_058216.3(RAD51C):c.418G>A (p.Val140Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 8, 2014
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:
RCV000160932.10

Allele description [Variation Report for NM_058216.3(RAD51C):c.418G>A (p.Val140Ile)]

NM_058216.3(RAD51C):c.418G>A (p.Val140Ile)

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.418G>A (p.Val140Ile)
Other names:
p.V140I:GTA>ATA
HGVS:
  • NC_000017.11:g.58696706G>A
  • NG_023199.1:g.9105G>A
  • NG_047169.1:g.374C>T
  • NM_058216.3:c.418G>AMANE SELECT
  • NP_478123.1:p.Val140Ile
  • NP_478123.1:p.Val140Ile
  • LRG_314t1:c.418G>A
  • LRG_314:g.9105G>A
  • LRG_314p1:p.Val140Ile
  • NC_000017.10:g.56774067G>A
  • NM_002876.2:c.*1513G>A
  • NM_058216.1:c.418G>A
  • NM_058216.2:c.418G>A
Protein change:
V140I
Links:
dbSNP: rs730881938
NCBI 1000 Genomes Browser:
rs730881938
Molecular consequence:
  • NM_058216.3:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211639GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 8, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211639.10

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

Description

This variant is denoted RAD51C c.418G>A at the cDNA level, p.Val140Ile (V140I) at the protein level, and results in the change of a Valine to an Isoleucine (GTA>ATA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51C Val140Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Valine and Isoleucine share similar properties, this is considered a conservative amino acid substitution. RAD51C Val140Ile occurs at a position that is well conserved across species and is not located in a known functional domain (French 2003). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether RAD51C Val140Ile is pathogenic or benign. 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: Nov 3, 2024