NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000590464.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)]

NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)
HGVS:
  • NC_000017.11:g.43093031C>G
  • NG_005905.2:g.124953G>C
  • NM_007294.4:c.2500G>CMANE SELECT
  • NM_007297.4:c.2359G>C
  • NM_007298.3:c.787+1713G>C
  • NM_007299.4:c.787+1713G>C
  • NM_007300.4:c.2500G>C
  • NP_009225.1:p.Gly834Arg
  • NP_009225.1:p.Gly834Arg
  • NP_009228.2:p.Gly787Arg
  • NP_009231.2:p.Gly834Arg
  • LRG_292t1:c.2500G>C
  • LRG_292:g.124953G>C
  • LRG_292p1:p.Gly834Arg
  • NC_000017.10:g.41245048C>G
  • NM_007294.3:c.2500G>C
  • NR_027676.2:n.2677G>C
  • p.G834R
Protein change:
G787R
Links:
dbSNP: rs786202215
NCBI 1000 Genomes Browser:
rs786202215
Molecular consequence:
  • NM_007298.3:c.787+1713G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1713G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.2500G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2359G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2500G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.2677G>C - 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
SCV000698963Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Feb 9, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698963.1

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

Description

Variant summary: The BRCA1 c.2500G>C (p.Gly834Arg) variant involves the alteration of a non-conserved nucleotide and is predicted to be benign by 3/4 in silico tools (SNPs&GO not captured due to low reliability index). The variant is located outside of some commonly known domains in BRCA1 protein (InterPro, UniPro). This variant is absent in 121354 control chromosomes from ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases, nor evaluated for functional impact by in vivo/vitro studies. A clinical diagnostic laboratory has reported this variant once in an individual undergoing BRCA1/2 testing without evidence to independently evaluate and has classified the variant as uncertain significance. Based on the currently available information, this variant is classified as a variant of uncertain significance (VUS).

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

Last Updated: Dec 4, 2021

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