NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp) AND Breast-ovarian cancer, familial 1

Clinical significance:Uncertain significance (Last evaluated: Mar 25, 2009)

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:
RCV000077520.2

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)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000109321Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(Mar 25, 2009)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109321.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2021

Support Center