NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) AND BRCA2-related cancer predisposition

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 24, 2024
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:: RCV004803889.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)]

NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)

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.7024C>T (p.Gln2342Ter)

HGVS:

NC_000013.11:g.32354877C>T
NG_012772.3:g.44398C>T
NM_000059.4:c.7024C>TMANE SELECT
NP_000050.2:p.Gln2342Ter
NP_000050.3:p.Gln2342Ter
LRG_293t1:c.7024C>T
LRG_293:g.44398C>T
LRG_293p1:p.Gln2342Ter
NC_000013.10:g.32929014C>T
NM_000059.3:c.7024C>T
U43746.1:n.7252C>T
p.Gln2342*

Nucleotide change:

7252C>T

Protein change:

Q2342*

Links:

dbSNP: rs80358928

Molecular consequence:

NM_000059.4:c.7024C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: BRCA2-related cancer predisposition
Identifiers:: MONDO: MONDO:0700269; MedGen: CN377758

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005424566	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 24, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 12491487, 19787003, 21470549, 25452441, 28637432, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005424566

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 24, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	143475	not provided	clinical testing

Citations

PubMed

Breast cancer genetics in African Americans.

Olopade OI, Fackenthal JD, Dunston G, Tainsky MA, Collins F, Whitfield-Broome C.

Cancer. 2003 Jan 1;97(1 Suppl):236-45. Review.

PubMed [citation]

PMID:: 12491487

Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer.

Panchal S, Shachar O, O'Malley F, Crystal P, Escallon J, Crook J, Bane A, Bordeleau L.

Nat Rev Clin Oncol. 2009 Oct;6(10):604-7. doi: 10.1038/nrclinonc.2009.116.

PubMed [citation]

PMID:: 19787003

See all PubMed Citations (6)

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV005424566.1

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

Description

This variant changes 1 nucleotide in exon 14 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in multiple individuals affected with female and male breast cancer (PMID: 12491487, 19787003, 21470549, 25452441, 28637432), including one pedigree that had four breast cancer affected siblings with this variant (PMID: 19787003). This variant has been identified in 1/250660 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	143475	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jul 27, 2026

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