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NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs) AND BRCA2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 29, 2024
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:
RCV004732573.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)]

NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)
HGVS:
  • NC_000013.10:g.32915133dup
  • NC_000013.11:g.32340996dup
  • NG_012772.3:g.30517dup
  • NM_000059.4:c.6641dupMANE SELECT
  • NP_000050.3:p.Tyr2215fs
  • LRG_293:g.30517dup
  • NC_000013.10:g.32915132_32915133insC
  • NC_000013.10:g.32915133dup
  • NM_000059.3:c.6641dupC
  • NM_000059.4:c.6641dup
  • NM_000059.4:c.6641dupC
  • U43746.1:n.6869_6870insC
  • p.Tyr2215Leufs*10
  • p.Y2215Lfs*10
Nucleotide change:
6869insC
Protein change:
Y2215fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 6869&base_change=ins C; dbSNP: rs80359613
NCBI 1000 Genomes Browser:
rs80359613
Molecular consequence:
  • NM_000059.4:c.6641dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
BRCA2-related disorder
Synonyms:
BRCA2-Related Disorders; BRCA2-related condition
Identifiers:
MedGen: CN239275

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005342894PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Mar 29, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005342894.1

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

Description

The BRCA2 c.6641dupC variant is predicted to result in a frameshift and premature protein termination (p.Tyr2215Leufs*10). This variant was reported in individuals with breast cancer (Levanat et al. 2012. PubMed ID: 22366370; Krivokuca et al. 2021. PubMed ID: 34284872). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in BRCA2 are expected to be pathogenic. This variant has been interpreted as pathogenic by an expert curation panel in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/38059/). This variant is interpreted as pathogenic.

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

Last Updated: Nov 3, 2024