NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) AND Breast-ovarian cancer, familial 2

Clinical significance:Conflicting interpretations of pathogenicity, Benign(3);Likely benign(2) (Last evaluated: Nov 6, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000031751.8

Allele description [Variation Report for NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala)]

NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala)
Other names:
p.E2856A:GAG>GCG
HGVS:
  • NC_000013.11:g.32371035A>C
  • NG_012772.3:g.60556A>C
  • NM_000059.3:c.8567A>C
  • NP_000050.2:p.Glu2856Ala
  • LRG_293t1:c.8567A>C
  • LRG_293:g.60556A>C
  • LRG_293p1:p.Glu2856Ala
  • NC_000013.10:g.32945172A>C
  • U43746.1:n.8795A>C
  • p.E2856A
Nucleotide change:
8795A>C
Protein change:
E2856A
Links:
dbSNP: 11571747
GMAF:
0.0002(C), 11571747
NCBI 1000 Genomes Browser:
rs11571747
Allele Frequency:
NaN, GO-ESP
Molecular consequence:
  • NM_000059.3:c.8567A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
190

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MedGen: C2675520; Orphanet: 145; OMIM: 612555
Age of onset:
All ages
Prevalence:
  • 1-9 / 100 000 Orphanet: 145
  • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. https://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054359Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(May 1, 2012)
germlineclinical testing

SCV000147403Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedBenign
(May 29, 2002)
germlineclinical testing

SCV000154095Counsylcriteria provided, single submitter
Likely benign
(Apr 8, 2014)
unknownliterature only

PubMed (16)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV000196016Michigan Medical Genetics Laboratories,University of Michigancriteria provided, single submitter
Benign
(Nov 3, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000207353Pathway Genomicsno assertion criteria providedLikely benign
(Nov 6, 2014)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

http://evs.gs.washington.edu/EVS/; http://www.1000genomes.org/

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided4not providednot provided4not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
unknownunknownnot providednot providednot providednot providednot providedliterature only
not providedgermlineyes68not providednot providednot providednot providedclinical testing
Africangermlineyes1not providednot providednot providednot providedclinical testing
Ashkenazigermlineyes1not providednot providednot providednot providedclinical testing
Caucasiangermlineyes3not providednot providednot providednot providedclinical testing
Central/Eastern Europeangermlineyes10not providednot providednot providednot providedclinical testing
Native Americangermlineyes2not providednot providednot providednot providedclinical testing
Western Europeangermlineyes94not providednot providednot providednot providedclinical testing
Western European, Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Western European, Central/Eastern European, French Canadiangermlineyes1not providednot providednot providednot providedclinical testing
Western European, Irishgermlineyes1not providednot providednot providednot providedclinical testing
Western European, Italiangermlineyes1not providednot providednot providednot providedclinical testing
Western European, Native Americangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeanan, Central/Eastern Europeangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

Pettigrew CA, Wayte N, Wronski A, Lovelock PK, Spurdle AB, Brown MA.

Breast Cancer Res Treat. 2008 Jul;110(2):227-34. Epub 2007 Sep 26.

PubMed [citation]
PMID:
17899372

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE.

J Clin Oncol. 2008 Nov 20;26(33):5393-400. doi: 10.1200/JCO.2008.17.8228. Epub 2008 Sep 29. Erratum in: J Clin Oncol. 2009 May 10;27(14):2415.

PubMed [citation]
PMID:
18824701
PMCID:
PMC2651073
See all PubMed Citations (18)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054359.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided4not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147403.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided56not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3not provided2not providednot providedclinical testingnot provided
4not provided1not providednot providedclinical testingnot provided
5not provided1not providednot providedclinical testingnot provided
6not provided1not providednot providedclinical testingnot provided
7not provided1not providednot providedclinical testingnot provided
8not provided5not providednot providedclinical testingnot provided
9African1not providednot providedclinical testingnot provided
10Ashkenazi1not providednot providedclinical testingnot provided
11Caucasian1not providednot providedclinical testingnot provided
12Caucasian1not providednot providedclinical testingnot provided
13Caucasian1not providednot providedclinical testingnot provided
14Central/Eastern European10not providednot providedclinical testingnot provided
15Native American2not providednot providedclinical testingnot provided
16Western European94not providednot providedclinical testingnot provided
17Western European, Central/Eastern European1not providednot providedclinical testingnot provided
18Western European, Central/Eastern European, French Canadian1not providednot providedclinical testingnot provided
19Western European, Irish1not providednot providedclinical testingnot provided
20Western European, Italian1not providednot providedclinical testingnot provided
21Western European, Native American1not providednot providedclinical testingnot provided
22Western Europeanan, Central/Eastern European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided56not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided2not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided
5germlineyesnot providednot providednot provided1not providednot providednot provided
6germlineyesnot providednot providednot provided1not providednot providednot provided
7germlineyesnot providednot providednot provided1not providednot providednot provided
8germlineyesnot providednot providednot provided5not providednot providednot provided
9germlineyesnot providednot providednot provided1not providednot providednot provided
10germlineyesnot providednot providednot provided1not providednot providednot provided
11germlineyesnot providednot providednot provided1not providednot providednot provided
12germlineyesnot providednot providednot provided1not providednot providednot provided
13germlineyesnot providednot providednot provided1not providednot providednot provided
14germlineyesnot providednot providednot provided10not providednot providednot provided
15germlineyesnot providednot providednot provided2not providednot providednot provided
16germlineyesnot providednot providednot provided94not providednot providednot provided
17germlineyesnot providednot providednot provided1not providednot providednot provided
18germlineyesnot providednot providednot provided1not providednot providednot provided
19germlineyesnot providednot providednot provided1not providednot providednot provided
20germlineyesnot providednot providednot provided1not providednot providednot provided
21germlineyesnot providednot providednot provided1not providednot providednot provided
22germlineyesnot providednot providednot provided2not providednot providednot provided

From Counsyl, SCV000154095.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedliterature only PubMed (16)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Michigan Medical Genetics Laboratories,University of Michigan, SCV000196016.1

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

From Pathway Genomics, SCV000207353.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2017