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NM_000059.4(BRCA2):c.7900del (p.Met2634fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 23, 2021
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:
RCV002477756.8

Allele description [Variation Report for NM_000059.4(BRCA2):c.7900del (p.Met2634fs)]

NM_000059.4(BRCA2):c.7900del (p.Met2634fs)

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.7900del (p.Met2634fs)
HGVS:
  • NC_000013.11:g.32362617del
  • NG_012772.3:g.52138del
  • NM_000059.4:c.7900delMANE SELECT
  • NP_000050.2:p.Met2634fs
  • NP_000050.3:p.Met2634fs
  • LRG_293t1:c.7900del
  • LRG_293:g.52138del
  • LRG_293p1:p.Met2634fs
  • NC_000013.10:g.32936754del
  • NM_000059.3:c.7900del
  • NM_000059.3:c.7900delA
Protein change:
M2634fs
Links:
dbSNP: rs1566244864
NCBI 1000 Genomes Browser:
rs1566244864
Molecular consequence:
  • NM_000059.4:c.7900del - 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
SCV002774318Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Jul 23, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas.

Akbari MR, Donenberg T, Lunn J, Curling D, Turnquest T, Krill-Jackson E, Zhang S, Narod SA, Hurley J.

Clin Genet. 2014 Jan;85(1):64-7. doi: 10.1111/cge.12132. Epub 2013 Apr 5.

PubMed [citation]
PMID:
23458327

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774318.1

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

Description

This frameshift variant causes the premature termination of BRCA2 protein synthesis. In addition, it was identified in affected individuals with breast cancer in the published literature ((PMID: 23458327 (2014)). 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: Oct 20, 2024