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NM_000059.3(BRCA2):c.5583dupA (p.Val1862Serfs) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000044687.5

Allele description

NM_000059.3(BRCA2):c.5583dupA (p.Val1862Serfs)

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.5583dupA (p.Val1862Serfs)
HGVS:
  • NC_000013.11:g.32339938dupA
  • NG_012772.3:g.29459dup
  • NM_000059.3:c.5583dupA
  • NP_000050.2:p.Val1862Serfs
  • LRG_293t1:c.5583dupA
  • LRG_293:g.29459dup
  • LRG_293p1:p.Val1862Serfs
  • NC_000013.10:g.32914075dupA
  • NM_000059.3:c.5583dup
  • p.K1861KFS*12
Links:
dbSNP: rs397507790
NCBI 1000 Genomes Browser:
rs397507790
Molecular consequence:
  • NM_000059.3:c.5583dupA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer
Identifiers:
MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000072700Invitaecriteria provided, single submitter
Pathogenic
(Sep 1, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, et al.

Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218.

PubMed [citation]
PMID:
22762150
PMCID:
PMC3680948

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000072700.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change inserts 1 nucleotide in exon 11 of the BRCA2 mRNA (c.5583dupA), causing a frameshift at codon 1862. This creates a premature translational stop signal (p.Val1862Serfs*11) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This particular truncation has been reported in the literature in an individual from a family affected with breast cancer (PMID: 22762150). This variant is also known as c.5582dup 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

Last Updated: Sep 30, 2018