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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 14, 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:: RCV005357340.1

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]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: BREAST CANCER, FAMILIAL; Hereditary breast cancer; hereditary breast carcinoma
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: BRCA2 Hereditary Breast and Ovarian Cancer
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005915627	Department of Pathology and Laboratory Medicine, Sinai Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 14, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19787003, 28637432, 25452441, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005915627

Department of Pathology and Laboratory Medicine, Sinai Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 14, 2023)

germline

clinical testing

PubMed (4)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.

Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Mæhle L, Undlien DE, Norum J, Schlichting E.

BMC Cancer. 2017 Jun 21;17(1):438. doi: 10.1186/s12885-017-3422-2.

PubMed [citation]

PMID:: 28637432
PMCID:: PMC5480128

See all PubMed Citations (4)

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System, SCV005915627.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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: Jul 27, 2026

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