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NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 5, 2022
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:
RCV003477877.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter)]

NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter)

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.1097T>G (p.Leu366Ter)
Other names:
1325T>G
HGVS:
  • NC_000013.11:g.32332575T>G
  • NG_012772.3:g.22096T>G
  • NM_000059.4:c.1097T>GMANE SELECT
  • NP_000050.2:p.Leu366Ter
  • NP_000050.3:p.Leu366Ter
  • LRG_293t1:c.1097T>G
  • LRG_293:g.22096T>G
  • LRG_293p1:p.Leu366Ter
  • NC_000013.10:g.32906712T>G
  • NM_000059.3:c.1097T>G
  • p.Leu366X
Protein change:
L366*
Links:
dbSNP: rs886040345
NCBI 1000 Genomes Browser:
rs886040345
Molecular consequence:
  • NM_000059.4:c.1097T>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004219495Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Nov 5, 2022) 		unknownclinical testing

PubMed (4)
[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

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ.

JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

PubMed [citation]
PMID:
29922827
PMCID:
PMC6092184
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219495.1

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

Description

This nonsense variant causes the premature termination of BRCA2 protein synthesis. In the published literature, the variant has been reported in an individual with a paraganglioma (PMID: 29625052 (2018)), as well as an individual with breast cancer (Quest internal data). 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: Sep 29, 2024