NM_000059.3(BRCA2):c.2588dupA (p.Asn863Lysfs) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: Oct 22, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000044019.4

Allele description

NM_000059.3(BRCA2):c.2588dupA (p.Asn863Lysfs)

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.2588dupA (p.Asn863Lysfs)
Other names:
2810insA
HGVS:
  • NC_000013.11:g.32336943dupA
  • NG_012772.3:g.26464dupA
  • NP_000050.2:p.Asn863Lysfs
  • LRG_293t1:c.2588dupA
  • LRG_293:g.26464dupA
  • LRG_293p1:p.Asn863Lysfs
  • NC_000013.10:g.32911080_32911081insA
  • NC_000013.10:g.32911080dup
  • NC_000013.10:g.32911080dupA
  • NG_012772.3:g.26464_26465insA
  • NM_000059.3:c.2588_2589insA
  • NM_000059.3:c.2588dup
  • NM_000059.3:c.2588dupA
  • U43746.1:n.2810_2811insA
  • U43746.1:n.2816_2817insA
Nucleotide change:
2816insA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 2810&base_change=ins A; Breast Cancer Information Core (BIC) (BRCA2): 2816&base_change=ins A; dbSNP: rs80359335
NCBI 1000 Genomes Browser:
rs80359335
Molecular consequence:
  • NM_000059.3:c.2588dupA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer
Identifiers:
MedGen: C0677776; Orphanet: 145
Prevalence:
http://www.ncbi.nlm.nih.gov/books/NBK1247/ 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
SCV000072032Invitaecriteria provided, single submitter
Pathogenic
(Oct 22, 2016)
germlineclinical testing

Citation Link,

SCV000219316Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontariocriteria provided, single submitter
Pathogenic
(Dec 4, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot 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 Invitae, SCV000072032.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This sequence change inserts 1 nucleotide in exon 11 of the BRCA2 mRNA (c.2588dupA), causing a frameshift at codon 863. This creates a premature translational stop signal (p.Asn863Lysfs*18) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in individuals affected with breast cancer, ovarian cancer, and Fanconi anemia (PMID: 11030417, 21324516, 24728189, 15070707). This variant is also known as 2816insA in the literature. For these reasons, this variant has been classified as Pathogenic.

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

From Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario, SCV000219316.2

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

Description

Interpretation was last updated within 1 year from 12/4/2015 9:07 AM

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

Last Updated: Jul 5, 2017