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NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (5 submissions)
Last evaluated:
Sep 8, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000113099.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)]

NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)
HGVS:
  • NC_000013.10:g.32911322_32911323del
  • NC_000013.11:g.32337189_32337190del
  • NG_012772.3:g.26710_26711del
  • NM_000059.4:c.2834_2835delMANE SELECT
  • NP_000050.3:p.Lys945fs
  • LRG_293:g.26710_26711del
  • NC_000013.10:g.32911322_32911323del
  • NC_000013.10:g.32911326_32911327del
  • NC_000013.10:g.32911326_32911327delAA
  • NC_000013.11:g.32337189_32337190delAA
  • NM_000059.3:c.2834_2835delAA
  • U43746.1:n.3062_3063delAA
Nucleotide change:
3062delAA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 3062&base_change=del AA; dbSNP: rs80359356
NCBI 1000 Genomes Browser:
rs80359356
Molecular consequence:
  • NM_000059.4:c.2834_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
3

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000146124Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenic
(May 29, 2002)
germlineclinical testing

SCV000297516Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(Jun 22, 2011)
germlineclinical testing

SCV000300565Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))
Pathogenic
(Sep 8, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000326773Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV001424784Division of Medical Genetics, University of Washington - CSER_CHARM
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 13, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided3not providednot providednot providedclinical testing, curation
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146124.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Sharing Clinical Reports Project (SCRP), SCV000297516.1

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300565.2

#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, SCV000326773.4

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

From Division of Medical Genetics, University of Washington - CSER_CHARM, SCV001424784.1

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

Description

The c.2834_2835delAA variant results in a translational frameshift and the introduction of a premature termination codon 13 residues downstream. The variant transcript is predicted to be unstable and degraded by nonsense-mediated decay. Loss of expression of one allele of BRCA2 is a well-established mechanism of disease for HBOC. Thus, this variant is interpreted as pathogenic.

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

Last Updated: Sep 29, 2024