NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 15, 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:: RCV002433727.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)]

NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)

HGVS:

NC_000013.10:g.32911229_32911233del
NC_000013.11:g.32337093ACTTG[1]
NG_012772.3:g.26614ACTTG[1]
NM_000059.4:c.2743_2747delMANE SELECT
NP_000050.3:p.Thr915fs
LRG_293:g.26614ACTTG[1]
NC_000013.10:g.32911229_32911233del
NC_000013.10:g.32911230ACTTG[1]
NC_000013.10:g.32911235_32911239delACTTG
NM_000059.3:c.2743_2747delACTTG

Protein change:

T915fs

Links:

dbSNP: rs786204752

NCBI 1000 Genomes Browser:

rs786204752

Molecular consequence:

NM_000059.4:c.2743_2747del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002749418	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 15, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 25371446, 25971625, 32073954, 34645131, 35171259 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002749418

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 15, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

Torres-Mejía G, Royer R, Llacuachaqui M, Akbari MR, Giuliano AR, Martínez-Matsushita L, Angeles-Llerenas A, Ortega-Olvera C, Ziv E, Lazcano-Ponce E, Phelan CM, Narod SA.

Cancer Epidemiol Biomarkers Prev. 2015 Mar;24(3):498-505. doi: 10.1158/1055-9965.EPI-13-0980. Epub 2014 Nov 4.

PubMed [citation]

PMID:: 25371446
PMCID:: PMC4495576

Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer.

Muendlein A, Rohde BH, Gasser K, Haid A, Rauch S, Kinz E, Drexel H, Hofmann W, Schindler V, Kapoor R, Decker T, Lang AH.

J Cancer Res Clin Oncol. 2015 Nov;141(11):2005-12. doi: 10.1007/s00432-015-1986-2. Epub 2015 May 15.

PubMed [citation]

PMID:: 25971625

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002749418.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

The c.2743_2747delACTTG pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of 5 nucleotides at nucleotide positions 2743 to 2747, causing a translational frameshift with a predicted alternate stop codon (p.T915Cfs*19). This alteration has been identified amongst multiple patients with a personal history of pancreatic adenocarcinoma and/or breast cancer (Yin L et al. JAMA Netw Open, 2022 02;5:e2148721; Torres-Mejía G et al. Cancer Epidemiol Biomarkers Prev, 2015 Mar;24:498-505; Muendlein A et al. J Cancer Res Clin Oncol, 2015 Nov;141:2005-12Bang YJ et al. Cancer Res Treat, 2021 Oct; Golan T et al. J Clin Oncol, 2020 05;38:1442-1454). This alteration has been referred to as BRCA2 2971del5 within the literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 16, 2025

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