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NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 11, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001818222.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)]

NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)

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.8817_8820del (p.Lys2939fs)
Other names:
9045delGAAA
HGVS:
  • NC_000013.11:g.32379379_32379382del
  • NG_012772.3:g.68900_68903del
  • NM_000059.4:c.8817_8820delMANE SELECT
  • NP_000050.3:p.Lys2939fs
  • LRG_293:g.68900_68903del
  • NC_000013.10:g.32953514_32953517del
  • NC_000013.10:g.32953516_32953519del
  • NM_000059.3:c.8817_8820delGAAA
  • p.Lys2939fs
Links:
dbSNP: rs397508010
NCBI 1000 Genomes Browser:
rs397508010
Molecular consequence:
  • NM_000059.4:c.8817_8820del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002065849Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 9, 2022) 		germlineclinical testing

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

SCV004220628Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Feb 11, 2023) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot 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

Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry.

Zhang J, Fackenthal JD, Zheng Y, Huo D, Hou N, Niu Q, Zvosec C, Ogundiran TO, Hennis AJ, Leske MC, Nemesure B, Wu SY, Olopade OI.

Breast Cancer Res Treat. 2012 Jul;134(2):889-94. doi: 10.1007/s10549-012-2136-z. Epub 2012 Jun 28.

PubMed [citation]
PMID:
22739995
See all PubMed Citations (6)

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002065849.1

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

Description

DNA sequence analysis of the BRCA2 gene demonstrated a four base pair deletion in exon 22, c.8817_8820del. This sequence change results in an amino acid frameshift and creates a premature stop codon 36 amino acids downstream of the sequence change, p.Lys2939Asnfs*36. This sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated BRCA2 protein with potentially abnormal function. This sequence change has previously been described in individuals with breast cancer (PMID: 22034289, 22739995). This sequence change has not been described in the gnomAD population database (rs397508010). Collectively these evidences suggest that, the c.3028del change is pathogenic.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004220628.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This frameshift variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast cancer (PMID: 22034289 (2012) and 22739995 (2012)). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Nov 3, 2024