NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) AND Malignant tumor of breast

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000504369.2

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)

Name:
Malignant tumor of breast
Synonyms:
Breast cancer; Malignant breast neoplasm
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000591385Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591385.2

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

Description

The BRCA1 p.Glu809Gly variant was not identified in the literature, but was identified in dbSNP (ID: rs397507201) “with uncertain significance allele”, the COSMIC database in one sample, and the ClinVar database where it was classified with “Uncertain significance” by the Sharing Reports Clinical Project (derived from Myriad reports). The variant was not identified in any control populations, including the Exome Variant Server ESP project, the Exome Aggregation Consortium (ExAC) database, 1000 Genomes project, or HAPMAP populations. The variant was also not identified in any other databases searched, including the HGMD, UMD, LOVD and BIC databases. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The p.Glu809 residue conserved across most mammals but is not conserved in lower organisms, and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein. However, this information is not predictive enough to rule out pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.

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

Last Updated: Aug 11, 2021

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