NM_002878.4(RAD51D):c.751A>G (p.Ile251Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236753.1

Allele description [Variation Report for NM_002878.4(RAD51D):c.751A>G (p.Ile251Val)]

NM_002878.4(RAD51D):c.751A>G (p.Ile251Val)

Genes:
RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RAD51L3-RFFL:RAD51L3-RFFL readthrough [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_002878.4(RAD51D):c.751A>G (p.Ile251Val)
HGVS:
  • NC_000017.11:g.35101353T>C
  • NG_031858.1:g.23517A>G
  • NM_001142571.2:c.811A>G
  • NM_002878.3:c.751A>G
  • NM_002878.4:c.751A>GMANE SELECT
  • NM_133629.3:c.415A>G
  • NP_001136043.1:p.Ile271Val
  • NP_002869.3:p.Ile251Val
  • NP_002869.3:p.Ile251Val
  • NP_598332.1:p.Ile139Val
  • LRG_516t1:c.751A>G
  • LRG_516:g.23517A>G
  • LRG_516p1:p.Ile251Val
  • NC_000017.10:g.33428372T>C
  • NR_037711.2:n.777A>G
  • NR_037712.2:n.642A>G
  • NR_037714.1:n.503A>G
  • p.I251V
Protein change:
I139V
Links:
dbSNP: rs540273429
NCBI 1000 Genomes Browser:
rs540273429
Molecular consequence:
  • NM_001142571.2:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002878.3:c.751A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002878.4:c.751A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133629.3:c.415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037711.2:n.777A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037712.2:n.642A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037714.1:n.503A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000293833GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 24, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293833.11

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

Description

This variant is denoted RAD51D c.751A>G at the cDNA level, p.Ile251Val (I251V) at the protein level, and results in the change of an Isoleucine to a Valine (ATA>GTA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51D Ile251Val was not observed in large population cohorts (Lek 2016, The 1000 Genomes Consortium 2015, NHLBI Exome Sequencing Project). Since Isoleucine and Valine share similar properties, this is considered a conservative amino acid substitution. RAD51D Ile251Val occurs at a position where amino acids with properties similar to Isoleucine are tolerated across species and is located in the RAD51C binding domain (Miller 2004). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether RAD51D Ile251Val 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: Oct 30, 2021

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