NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs) AND Breast-ovarian cancer, familial 2

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
6 submissions [Details]
Record status:
current
Accession:
RCV000031541.8

Allele description [Variation Report for NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs)]

NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs)
HGVS:
  • NC_000013.11:g.32339706dupA
  • NG_012772.3:g.29227dupA
  • NM_000059.3:c.5351dupA
  • NP_000050.2:p.Asn1784Lysfs
  • LRG_293t1:c.5351dupA
  • LRG_293:g.29227dupA
  • LRG_293p1:p.Asn1784Lysfs
  • NC_000013.10:g.32913843dupA
  • NG_012772.3:g.29227_29228insA
  • NM_000059.3:c.5351_5352insA
  • NM_000059.3:c.5351dup
  • U43746.1:n.5579_5580insA
  • p.N1784KFS*3
  • p.N1784KfsX3
Nucleotide change:
5579insA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 5579&base_change=ins A; dbSNP: 80359508
NCBI 1000 Genomes Browser:
rs80359508
Molecular consequence:
  • NM_000059.3:c.5351dupA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
21

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
SCV000054146Sharing Clinical Reports Project (SCRP)no assertion criteria providedPathogenic
(Feb 16, 2011)
germlineclinical testing

SCV000146603Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedPathogenic
(May 29, 2002)
germline, somatic, unknownclinical testing

SCV000189897Pathway Genomicsno assertion criteria providedPathogenic
(Jul 24, 2014)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV000267780Michigan Medical Genetics Laboratories,University of Michigancriteria provided, single submitter
Pathogenic
(Apr 21, 2016)
germlineclinical testing

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

SCV000300862Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Sep 8, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000327205Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridgecriteria provided, single submitter
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes7not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided21not providednot providednot providedclinical testing, curation
not providedgermlinenot provided3not providednot provided3not providedclinical testing
not providedsomaticyes1not providednot providednot providednot providedclinical testing
not providednot providedyes1not providednot providednot providednot providedclinical testing
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes4not providednot providednot providednot providedclinical testing
Western European, African, Latin Americagermlineyes1not providednot providednot providednot providedclinical testing
Western European, Ashkenazigermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families.

Peelen T, van Vliet M, Bosch A, Bignell G, Vasen HF, Klijn JG, Meijers-Heijboer H, Stratton M, van Ommen GJ, Cornelisse CJ, Devilee P.

Br J Cancer. 2000 Jan;82(1):151-6.

PubMed [citation]
PMID:
10638982
PMCID:
PMC2363204

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.

Verhoog LC, van den Ouweland AM, Berns E, van Veghel-Plandsoen MM, van Staveren IL, Wagner A, Bartels CC, Tilanus-Linthorst MM, Devilee P, Seynaeve C, Halley DJ, Niermeijer MF, Klijn JG, Meijers-Heijboer H.

Eur J Cancer. 2001 Nov;37(16):2082-90.

PubMed [citation]
PMID:
11597388
See all PubMed Citations (5)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054146.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided3not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146603.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3not provided1not providednot providedclinical testingnot provided
4not provided1not providednot providedclinical testingnot provided
5Caucasian1not providednot providedclinical testingnot provided
6Western European4not providednot providedclinical testingnot provided
7Western European, African, Latin America1not providednot providedclinical testingnot provided
8Western European, Ashkenazi1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3somaticyesnot providednot providednot provided1not providednot providednot provided
4unknownyesnot providednot providednot provided1not providednot providednot provided
5germlineyesnot providednot providednot provided1not providednot providednot provided
6germlineyesnot providednot providednot provided4not providednot providednot provided
7germlineyesnot providednot providednot provided1not providednot providednot provided
8germlineyesnot providednot providednot provided1not providednot providednot provided

From Pathway Genomics, SCV000189897.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Michigan Medical Genetics Laboratories,University of Michigan, SCV000267780.1

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300862.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327205.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided21not provided

Last Updated: Apr 16, 2017