NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Oct 22, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000589185.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)]

NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)

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.2426A>G (p.Glu809Gly)
HGVS:
  • NC_000017.11:g.43093105T>C
  • NG_005905.2:g.124879A>G
  • NM_007294.3:c.2426A>G
  • NM_007294.4:c.2426A>GMANE SELECT
  • NM_007297.4:c.2285A>G
  • NM_007298.3:c.787+1639A>G
  • NM_007299.4:c.787+1639A>G
  • NM_007300.4:c.2426A>G
  • NP_009225.1:p.Glu809Gly
  • NP_009225.1:p.Glu809Gly
  • NP_009228.2:p.Glu762Gly
  • NP_009231.2:p.Glu809Gly
  • LRG_292t1:c.2426A>G
  • LRG_292:g.124879A>G
  • LRG_292p1:p.Glu809Gly
  • NC_000017.10:g.41245122T>C
  • NR_027676.2:n.2603A>G
  • p.E809G
Nucleotide change:
2545A>G
Protein change:
E762G
Links:
dbSNP: rs397507201
NCBI 1000 Genomes Browser:
rs397507201
Molecular consequence:
  • NM_007298.3:c.787+1639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.2426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2285A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.2603A>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
SCV000698951Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(May 9, 2016)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001470160Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Oct 22, 2019)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population.

Darooei M, Poornima S, Salma BU, Iyer GR, Pujar AN, Annapurna S, Shah A, Maddali S, Hasan Q.

Tumour Biol. 2017 Feb;39(2):1010428317694303. doi: 10.1177/1010428317694303.

PubMed [citation]
PMID:
28231738

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698951.1

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

Description

Variant summary: The BRCA1 c.2426A>G (p.Glu809Gly) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome. This variant was found in 8/121344 control chromosomes, predominantly observed in the South Asian subpopulation at a frequency of 0.0004849 (8/16498). This frequency is about 0.5 times of the estimated maximal allele frequency of a pathogenic BRCA1 variant (0.0010005), suggesting this is likely a rare functional polymorphism found primarily in the populations of South Asian origin. Multiple clinical diagnostic laboratories have classified this variant as VUS. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. It has been reported in two samples from patients affected with stomach cancer in COSMIC, one without confirmation of somatic status. Due to the sufficient clinical information and lack of functional studies, the variant has been classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470160.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2021

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