NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236670.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr)]

NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr)

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.4759G>A (p.Ala1587Thr)
HGVS:
  • NC_000013.11:g.32339114G>A
  • NG_012772.3:g.28635G>A
  • NM_000059.3:c.4759G>A
  • NP_000050.2:p.Ala1587Thr
  • LRG_293t1:c.4759G>A
  • LRG_293:g.28635G>A
  • LRG_293p1:p.Ala1587Thr
  • NC_000013.10:g.32913251G>A
  • p.A1587T
Protein change:
A1587T
Links:
dbSNP: rs56137239
NCBI 1000 Genomes Browser:
rs56137239
Molecular consequence:
  • NM_000059.3:c.4759G>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
SCV000293727GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 23, 2015)
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, SCV000293727.9

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

Description

This variant is denoted BRCA2 c.4759G>A at the cDNA level, p.Ala1587Thr (A1587T) at the protein level, and results in the change of an Alanine to a Threonine (GCT>ACT). Using alternate nomenclature, this variant would be defined as BRCA2 4987G>A. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ala1587Thr 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 Alanine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Ala1587Thr occurs at a position that is not conserved and is located within a region required for POLH DNA synthesis stimulation and for interaction with POLH and RAD51 (Roy 2012, UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Ala1587Thr 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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