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NM_000059.4(BRCA2):c.8029del (p.Glu2677fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000166854.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.8029del (p.Glu2677fs)]

NM_000059.4(BRCA2):c.8029del (p.Glu2677fs)

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.8029del (p.Glu2677fs)
Other names:
8257delG
HGVS:
  • NC_000013.11:g.32363231del
  • NG_012772.3:g.52752del
  • NM_000059.4:c.8029delMANE SELECT
  • NM_000059.4:c.8029delG
  • NP_000050.3:p.Glu2677fs
  • LRG_293:g.52752del
  • NC_000013.10:g.32937367del
  • NC_000013.10:g.32937368del
  • NM_000059.3:c.8029delG
  • U43746.1:n.8257delG
  • p.E2677KFS*17
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8257&base_change=del G; dbSNP: rs80359691
NCBI 1000 Genomes Browser:
rs80359691
Molecular consequence:
  • NM_000059.4:c.8029del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000217669Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 31, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000217669.7

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

Description

The c.8029delG pathogenic mutation, located in coding exon 17 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 8029, causing a translational frameshift with a predicted alternate stop codon (p.E2677Kfs*17). This mutation was reported in 1/200 Asian individuals referred for genetic testing; however, neither personal history nor family history information was available for the carrier of this mutation (Kurian, AW et al. J Clin Oncol. 2008 Oct 10;26(29):4752-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 3, 2024