NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 26, 2019
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:: RCV002433531.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs)]

NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs)

HGVS:

NC_000013.11:g.32337167_32337170del
NG_012772.3:g.26688_26691del
NM_000059.4:c.2812_2815delMANE SELECT
NM_000059.4:c.2812_2815delGCAA
NP_000050.3:p.Ala938fs
LRG_293:g.26688_26691del
NC_000013.10:g.32911304_32911307del
NM_000059.3:c.2812_2815delGCAA
U43746.1:n.3040_3043delGCAA

Nucleotide change:

3040del4

Links:

Breast Cancer Information Core (BIC) (BRCA2): 3040&base_change=del GCAA; dbSNP: rs80359354

NCBI 1000 Genomes Browser:

rs80359354

Molecular consequence:

NM_000059.4:c.2812_2815del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; 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
SCV002749254	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Apr 26, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17972177, 26360800 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002749254

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Apr 26, 2019)

germline

clinical testing

PubMed (2)
[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

BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.

Purnomosari D, Pals G, Wahyono A, Aryandono T, Manuaba TW, Haryono SJ, van Diest PJ.

Breast Cancer Res Treat. 2007 Dec;106(2):297-304. Epub 2007 Feb 15.

PubMed [citation]

PMID:: 17972177
PMCID:: PMC2092410

Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.

Roed Nielsen H, Petersen J, Therkildsen C, Skytte AB, Nilbert M.

Acta Oncol. 2016;55(1):38-44. doi: 10.3109/0284186X.2015.1067714. Epub 2015 Sep 11.

PubMed [citation]

PMID:: 26360800

Details of each submission

From Ambry Genetics, SCV002749254.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.2812_2815delGCAA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of 4 nucleotides at nucleotide positions 2812 to 2815, causing a translational frameshift with a predicted alternate stop codon (p.A938Pfs*21). This mutation has been reported in a woman with early-onset breast cancer and in a man with breast cancer (Purnomosari D et al. Breast Cancer Res. Treat. 2007 Dec;106:297-304; Roed Nielsen H et al. Acta Oncol. 2016 Sep;55:38-44). Of note, this alteration is also designated as c.3040_3043delGCAA, c.3040_3043del4 and c.2812delGCAA in published 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: Oct 26, 2024

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