NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000590050.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)]

NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)

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.2481A>C (p.Glu827Asp)
HGVS:
  • NC_000017.11:g.43093050T>G
  • NG_005905.2:g.124934A>C
  • NM_007294.3:c.2481A>C
  • NM_007294.4:c.2481A>CMANE SELECT
  • NM_007297.4:c.2340A>C
  • NM_007298.3:c.787+1694A>C
  • NM_007299.4:c.787+1694A>C
  • NM_007300.4:c.2481A>C
  • NP_009225.1:p.Glu827Asp
  • NP_009225.1:p.Glu827Asp
  • NP_009228.2:p.Glu780Asp
  • NP_009231.2:p.Glu827Asp
  • LRG_292t1:c.2481A>C
  • LRG_292:g.124934A>C
  • LRG_292p1:p.Glu827Asp
  • NC_000017.10:g.41245067T>G
  • NR_027676.2:n.2658A>C
Nucleotide change:
2600A>C
Protein change:
E780D
Links:
dbSNP: rs397508970
NCBI 1000 Genomes Browser:
rs397508970
Molecular consequence:
  • NM_007298.3:c.787+1694A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1694A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.2481A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2481A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2340A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2481A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.2658A>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
SCV000698960Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Jun 6, 2016)
germlineclinical testing

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

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

Citations

PubMed

Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.

Kim BY, Lee DG, Lee KR, Han SH, Surendran S, Han CW, Chung N.

Biochem Biophys Res Commun. 2006 Oct 20;349(2):604-10. Epub 2006 Aug 24.

PubMed [citation]
PMID:
16949048

Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

Han SH, Lee KR, Lee DG, Kim BY, Lee KE, Chung WS.

Clin Genet. 2006 Dec;70(6):496-501.

PubMed [citation]
PMID:
17100994

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: The BRCA1 c.2481A>C (p.Glu827Asp) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 4/121702 control chromosomes at a frequency of 0.0000329, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). This variant has been reported in BrC pts as well as in normal controls in literatures. In addition, one clinical diagnostic laboratory via ClinVar classified this variant as likely benign and another lab via ClinVar classified this variant as VUS, without evidence to independently evaluate. Because of the absence of clinical information and the lack of functional studies, the variant was 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

Last Updated: Jun 18, 2021

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