NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 26, 2024
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:: RCV000478066.18

Allele description [Variation Report for NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)]

NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)

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.4111C>T (p.Gln1371Ter)

HGVS:

NC_000013.11:g.32338466C>T
NG_012772.3:g.27987C>T
NM_000059.4:c.4111C>TMANE SELECT
NP_000050.2:p.Gln1371Ter
NP_000050.3:p.Gln1371Ter
LRG_293t1:c.4111C>T
LRG_293:g.27987C>T
LRG_293p1:p.Gln1371Ter
NC_000013.10:g.32912603C>T
NM_000059.3:c.4111C>T
U43746.1:n.4339C>T
p.Gln1371*
p.Q1371*

Nucleotide change:

4339C>T

Protein change:

Q1371*

Links:

dbSNP: rs80358659

NCBI 1000 Genomes Browser:

rs80358659

Molecular consequence:

NM_000059.4:c.4111C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000296507	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Mar 12, 2021)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 29446198, 26564481, 25371446, 17319787, 26467025, 26295337
SCV000567705	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 26, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000296507

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Mar 12, 2021)

unknown

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV000567705

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jan 26, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Dutil J, Golubeva VA, Pacheco-Torres AL, Diaz-Zabala HJ, Matta JL, Monteiro AN.

Breast Cancer Res Treat. 2015 Dec;154(3):441-53. doi: 10.1007/s10549-015-3629-3. Epub 2015 Nov 12.

PubMed [citation]

PMID:: 26564481
PMCID:: PMC4661195

See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296507.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This nonsense variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been identified in individuals affected with breast cancer in the published literature (PMID: 29446198 (2018), 26564481 (2015), 25371446 (2014), 17319787 (2007)). Based on the available information, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV000567705.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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; Observed in individuals with BRCA2-related cancers (PMID: 11056688, 22711857, 26564481, 25371446); 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 4339C>T; This variant is associated with the following publications: (PMID: 26564481, 28127413, 22711857, 10923033, 25371446, 11056688, 26295337, 17319787, 29446198, 30787465, 36367610, 35438911)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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