NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 2, 2023
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:
RCV002274907.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)]

NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)
HGVS:
  • NC_000013.11:g.32363289T>A
  • NG_012772.3:g.52810T>A
  • NM_000059.4:c.8087T>AMANE SELECT
  • NP_000050.2:p.Leu2696Ter
  • NP_000050.3:p.Leu2696Ter
  • LRG_293t1:c.8087T>A
  • LRG_293:g.52810T>A
  • LRG_293p1:p.Leu2696Ter
  • NC_000013.10:g.32937426T>A
  • NM_000059.3:c.8087T>A
  • U43746.1:n.8315T>A
Protein change:
L2696*
Links:
dbSNP: rs80359050
NCBI 1000 Genomes Browser:
rs80359050
Molecular consequence:
  • NM_000059.4:c.8087T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002562484GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Aug 2, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002562484.3

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 8315T>A; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Rebbeck et al., 2018; Tsaousis et al., 2019; Ozmen et al., 2022); This variant is associated with the following publications: (PMID: 35261632, 29446198, 31159747, 20104584)

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

Last Updated: Sep 29, 2024