NM_000059.3(BRCA2):c.338G>A (p.Arg113Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000478500.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.338G>A (p.Arg113Lys)]

NM_000059.3(BRCA2):c.338G>A (p.Arg113Lys)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.338G>A (p.Arg113Lys)
HGVS:
  • NC_000013.11:g.32325097G>A
  • NG_012772.3:g.14618G>A
  • NM_000059.3:c.338G>A
  • NP_000050.2:p.Arg113Lys
  • LRG_293t1:c.338G>A
  • LRG_293:g.14618G>A
  • LRG_293p1:p.Arg113Lys
  • NC_000013.10:g.32899234G>A
Protein change:
R113K
Links:
dbSNP: rs876659161
NCBI 1000 Genomes Browser:
rs876659161
Molecular consequence:
  • NM_000059.3:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000571999GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 12, 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, SCV000571999.5

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

Description

This variant is denoted BRCA2 c.338G>A at the cDNA level, p.Arg113Lys (R113K) at the protein level, and results in the change of an Arginine to a Lysine (AGA>AAA). Using alternate nomenclature, this variant would be defined as BRCA2 566G>A. This variant has not, to our knowledge, been published in the literature as a pathogenic germline variant or a benign polymorphism. However, it has been reported as a somatic variant in an individual with squamous cell lung cancer and another with prostate cancer (Hovelson 2015, Paik 2015). BRCA2 Arg113Lys was not observed in large population cohorts (Lek 2016). Since Arginine and Lysine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Arg113Lys is not located in a known functional domain. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Arg113Lys 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: Apr 18, 2021

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