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NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001353471.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)]

NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)

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.8575del (p.Gln2859fs)
HGVS:
  • NC_000013.11:g.32371043del
  • NG_012772.3:g.60564del
  • NM_000059.4:c.8575delMANE SELECT
  • NP_000050.3:p.Gln2859fs
  • LRG_293:g.60564del
  • NC_000013.10:g.32945180del
  • NC_000013.10:g.32945180delC
  • NC_000013.11:g.32371043delC
  • NM_000059.3:c.8575delC
  • NM_000059.4:c.8575del
  • NM_000059.4:c.8575delC
  • U43746.1:n.8803delC
  • p.Gln2859Lysfs*4
  • p.Q2859KFS*4
Nucleotide change:
8803delC
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8803&base_change=del C; dbSNP: rs80359718
NCBI 1000 Genomes Browser:
rs80359718
Molecular consequence:
  • NM_000059.4:c.8575del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000592211Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592211.2

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

Description

The BRCA2 p.Gln2859LysfsX4 deletion variant was identified in 3 of 4874 proband chromosomes from individuals with breast or ovarian cancer (Borg 2010, Loman 2001, Martin 2001). The variant was also identified in dbSNP (ID: rs80359718) “With pathogenic allele”, HGMD, LOVD, and the BIC database (19X as a variant with clinical importance). The p.Gln2859LysfsX4 deletion variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 2859 and leads to a premature stop codon 4 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA2 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

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

Last Updated: May 19, 2024