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NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2017
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:
RCV002433534.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)]

NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)
Other names:
8622delTAGinsAA
HGVS:
  • NC_000013.11:g.32370464_32370466delinsAA
  • NG_012772.3:g.59985_59987delinsAA
  • NM_000059.4:c.8394_8396delinsAAMANE SELECT
  • NP_000050.3:p.Arg2799fs
  • LRG_293:g.59985_59987delinsAA
  • NC_000013.10:g.32944601_32944603delinsAA
  • NM_000059.3:c.8394_8396delTAGinsAA
  • NM_000059.4:c.8394_8396delinsAA
  • U43746.1:n.8622_8624delTAGinsAA
  • p.R2799NfsX22
Protein change:
R2799fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8622&base_change=del TAG ins AA; dbSNP: rs276174907
NCBI 1000 Genomes Browser:
rs276174907
Molecular consequence:
  • NM_000059.4:c.8394_8396delinsAA - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002679774Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 2, 2017) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

Acedo A, Sanz DJ, Durán M, Infante M, Pérez-Cabornero L, Miner C, Velasco EA.

Breast Cancer Res. 2012 May 25;14(3):R87.

PubMed [citation]
PMID:
22632462
PMCID:
PMC3446350

Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy.

Schrader KA, Hurlburt J, Kalloger SE, Hansford S, Young S, Huntsman DG, Gilks CB, McAlpine JN.

Obstet Gynecol. 2012 Aug;120(2 Pt 1):235-40. doi: 10.1097/AOG.0b013e31825f3576.

PubMed [citation]
PMID:
22776961
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002679774.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The c.8394_8396delTAGinsAA pathogenic mutation, located in coding exon 18 of the BRCA2 gene, results from the deletion of 3 nucleotides and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon (p.R2799Nfs*22). This mutation has been reported in a patient diagnosed with ovarian cancer who had a family history consistent with HBOC (Schrader KA, Obstet Gynecol 2012 Aug; 120(2 Pt 1):235-40), in an individual diagnosed with both breast and pancreatic cancer (Susswein LR et al. Genet. Med., 2016 Aug;18:823-32), and in an individual with a personal and/or family history of breast and/or ovarian cancer (Tea MK, Maturitas 2014 Jan; 77(1):68-72). Of note, this mutation is also designated as 8622delTAGinsAA in published literature. 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