VCV000037954.116 - ClinVar

NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)

Germline

Reviewed by expert panel

Reviewed by expert panel. Learn more about how ClinVar calculates review status.

Pathogenic

for Breast-ovarian cancer, familial, susceptibility to, 2

Classification is based on the expert panel submission

Sep 2016 by Evidence-based Network for the Interpretation of Germline M…

The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)

Variation ID: 37954 Accession: VCV000037954.116

Type and length

Duplication, 1 bp

Location

Cytogenetic: 13q13.1 13: 32339592-32339593 (GRCh38) [ NCBI UCSC ] 13: 32913730 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Apr 1, 2014	Mar 1, 2026	Sep 8, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NM_000059.4:c.5238dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000050.3:p.Asn1747Ter	nonsense
NM_000059.3:c.5238dupT
NC_000013.11:g.32339593dup
NC_000013.10:g.32913730dup
NG_012772.3:g.29114dup
LRG_293:g.29114dup
U43746.1:n.5466_5467insT

... more HGVS ... less HGVS

Protein change

N1747*

Other names

5466insT

Canonical SPDI

NC_000013.11:32339592:T:TT

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

The Genome Aggregation Database (gnomAD), exomes 0.00000

Trans-Omics for Precision Medicine (TOPMed) 0.00000

Links

Breast Cancer Information Core (BIC) (BRCA2): 5466&base_change=ins T ClinGen: CA021826 dbSNP: rs80359499 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
BRCA2		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	21455	21622

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (9)	reviewed by expert panel	Sep 8, 2016	RCV000031535.27
Hereditary cancer-predisposing syndrome	Pathogenic (3)	criteria provided, multiple submitters, no conflicts	Dec 31, 2024	RCV000130726.22
not provided	Pathogenic (11)	criteria provided, multiple submitters, no conflicts	Mar 4, 2025	RCV000212240.51
Hereditary breast ovarian cancer syndrome	Pathogenic (6)	criteria provided, multiple submitters, no conflicts	Jan 11, 2026	RCV000257922.30
Malignant tumor of breast	Pathogenic (1)	no assertion criteria provided	-	RCV001353486.10
Breast and/or ovarian cancer	Pathogenic (2)	criteria provided, single submitter	Nov 17, 2021	RCV001170969.13
Familial cancer of breast	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Jul 24, 2023	RCV001262734.12
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Fanconi anemia complementation group D1 Glioma susceptibility 3 Medulloblastoma Pancreatic cancer, susceptibility to, 2 Prostate cancer Wilms tumor 1	Pathogenic (1)	criteria provided, single submitter	Feb 16, 2022	RCV002496483.8
Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic (1)	criteria provided, single submitter	Feb 14, 2024	RCV003884336.2
BRCA2-related disorder	Pathogenic (1)	no assertion criteria provided	Jun 12, 2024	RCV004532449.2
BRCA2-related cancer predisposition	Pathogenic (1)	criteria provided, single submitter	Jul 29, 2024	RCV004803042.1
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Familial prostate cancer Fanconi anemia complementation group D1 Glioma susceptibility 3 Medulloblastoma Pancreatic cancer, susceptibility to, 2 Wilms tumor 1	Pathogenic (1)	criteria provided, single submitter	-	RCV006605199.1
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Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Sep 08, 2016) C Contributing to aggregate classification	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Breast-ovarian cancer, familial, susceptibility to, 2	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Accession: SCV000300851.2 First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016	Comment: show Variant allele predicted to encode a truncated non-functional protein. (less) Observation: 1 Collection method: curation Allele origin: germline Affected status: unknown Observation 1 Collection method: curation Allele origin: germline Affected status: unknown

Pathogenic (Apr 21, 2016) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Breast-ovarian cancer, familial, susceptibility to, 2	Michigan Medical Genetics Laboratories, University of Michigan Accession: SCV000267778.1 First in ClinVar: Mar 29, 2015 Last updated: Mar 29, 2015	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Tissue: Blood

Pathogenic (Apr 20, 2017) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hereditary breast ovarian cancer syndrome	Department of Pathology and Molecular Medicine, Queen's University Study: The Canadian Open Genetics Repository (COGR) Accession: SCV000588099.1 First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Nov 06, 2015) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hereditary breast ovarian cancer syndrome	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario Study: The Canadian Open Genetics Repository (COGR) Accession: SCV000219349.3 First in ClinVar: Mar 29, 2015 Last updated: Aug 27, 2017	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Nov 17, 2021) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Breast and/or ovarian cancer	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario Accession: SCV001333629.3 First in ClinVar: May 31, 2020 Last updated: Mar 11, 2023	Publications: PubMed (1) PubMed: 25741868 Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Nov 03, 2021) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden Accession: SCV002010358.3 First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: not provided Observation 1 Collection method: clinical testing Allele origin: germline Affected status: not provided

Pathogenic (May 27, 2024) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Breast-ovarian cancer, familial, susceptibility to, 2	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet Accession: SCV005045899.1 First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024	Comment: show PVS1; PM2_supporting; PM5_PTC_Strong (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Dec 31, 2024) N Not contributing to aggregate classification	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Hereditary cancer-predisposing syndrome	Ambry Genetics Accession: SCV000185615.9 First in ClinVar: Aug 06, 2014 Last updated: Apr 28, 2025	Publications: PubMed (6) PubMed: 11802209‚ 18703817‚ 22430266‚ 25682074‚ 26022348‚ 26681312 Comment: show The c.5238dupT pathogenic mutation (also known as p.N1747*), located in coding exon 10 of the BRCA2 gene, results from a duplication of T at nucleotide position 5238. This changes the amino acid from a asparagine to a stop codon within coding exon 10. This mutation has been described in multiple breast and/or ovarian cancer families, including individuals with pre-menopausal and triple negative breast cancer (Frank TS et al. J. Clin. Oncol. 1998 Jul;16(7):2417-25; Meindl A et al. Int. J. Cancer. 2002 Feb;97(4):472-80; Pohlreich P et al. Breast Cancer Res. 2005 Jul;7(5):R728-36; Palma MD et al. Cancer Res. 2008 Sep;68(17):7006-14; Pern F et al. PLoS One. 2012 Oct;7(10):e47993; Wong-Brown MW et al. Breast Cancer Res. Treat. 2015 Feb;150:71-80; Schroeder C et al. Breast Cancer Res. Treat. 2015 Jul;152:129-136). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Of note, this alteration is also designated as 5466insT 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. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Nov 30, 2022) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Revvity Omics, Revvity Accession: SCV002019086.4 First in ClinVar: Nov 29, 2021 Last updated: Sep 06, 2025	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (-) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Glioma susceptibility 3 Medulloblastoma Pancreatic cancer, susceptibility to, 2 Familial prostate cancer Fanconi anemia complementation group D1 Wilms tumor 1 Explanation for multiple conditions: Uncertain. The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.	Juno Genomics, Hangzhou Juno Genomics, Inc Accession: SCV007495904.1 First in ClinVar: Mar 01, 2026 Last updated: Mar 01, 2026	Comment: show Null variant in a gene where loss of function (LOF) is a known mechanism of disease.;Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Jan 16, 2018) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hereditary cancer-predisposing syndrome	Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. Accession: SCV000747811.1 First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Jan 01, 2019) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Familial cancer of breast	Institute of Human Genetics, University of Leipzig Medical Center Accession: SCV001440711.1 First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020	Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: no Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: no

Pathogenic (Sep 22, 2017) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Clinical Genetics and Genomics, Karolinska University Hospital Accession: SCV001449908.1 First in ClinVar: Dec 10, 2020 Last updated: Dec 10, 2020	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 1

Pathogenic (Dec 07, 2020) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Mayo Clinic Laboratories, Mayo Clinic Accession: SCV001716155.1 First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021	Publications: PubMed (6) PubMed: 11802209‚ 23110154‚ 26022348‚ 27535533‚ 30254663‚ 9667259 Comment: show PVS1, PM2, PP5 (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Number of individuals with the variant: 1

Pathogenic (Jan 26, 2021) N Not contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	not provided	GeneDx Accession: SCV000210763.9 First in ClinVar: Feb 24, 2015 Last updated: Apr 17, 2019	Comment: show 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; Reported in association with hereditary breast and/or ovarian cancer (Frank 1998, Meindl 2002, Nanda 2005, Pohlreich 2005, van der Hout 2006, Song 2014, Wong-Brown 2015, Frey 2017); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 24504028, 24728189, 26681312, 27856273, 28495237, 28324225, 32295079, 16168118, 18703817, 22430266, 16234499, 15131399, 16683254, 9667259, 23110154, 27157322, 25682074, 11802209, 28454591, 27930734, 26022348, 30702160, 32719484) (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Jun 20, 2022) N Not contributing to aggregate classification	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Hereditary breast ovarian cancer syndrome	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000694848.2 First in ClinVar: Dec 26, 2017 Last updated: Aug 08, 2022	Publications: PubMed (6) PubMed: 11802209‚ 16168118‚ 16234499‚ 18703817‚ 23110154‚ 24728189 Comment: show Variant summary: BRCA2 c.5238dupT (p.Asn1747X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 252034 control chromosomes. c.5238dupT has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Meindl_2002, Nanda_2005, Palma_2008, Pern_2012, Pohlreich_2005, Song_2014). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Multiple clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Oct 02, 2015) N Not contributing to aggregate classification	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Breast-ovarian cancer, familial, susceptibility to, 2	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge Accession: SCV000327184.4 First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Feb 16, 2022) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Familial cancer of breast Medulloblastoma Familial prostate cancer Wilms tumor 1 Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Glioma susceptibility 3 Pancreatic cancer, susceptibility to, 2	Fulgent Genetics, Fulgent Genetics Accession: SCV002811039.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022	Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown

Pathogenic (Jul 24, 2023) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Familial cancer of breast	Baylor Genetics Accession: SCV004213729.1 First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023	Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown

Pathogenic (Aug 16, 2021) N Not contributing to aggregate classification	criteria provided, single submitter (Quest Diagnostics criteria)	not provided	Quest Diagnostics Nichols Institute San Juan Capistrano Accession: SCV000296566.5 First in ClinVar: Mar 29, 2015 Last updated: Jan 06, 2024	Publications: PubMed (15) PubMed: 11802209‚ 18703817‚ 22430266‚ 23110154‚ 24504028‚ 24728189‚ 25186627‚ 25682074‚ 26022348‚ 26295337‚ 26681312‚ 30702160‚ 32719484‚ 32885271‚ 34399810 Comment: show This frameshift variant causes the premature termination of BRCA2 protein synthesis. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In addition, it has been described in individuals with breast cancer and ovarian cancer (PMID: 26681312 (2015), 25682074 (2015), 25186627 (2015), 24728189 (2014), 22430266 (2012)). Based on the available information, this variant is classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown

Pathogenic (Aug 01, 2024) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Breast-ovarian cancer, familial, susceptibility to, 2 (Autosomal dominant inheritance)	Department of Human Genetics, Hannover Medical School Accession: SCV005091218.1 First in ClinVar: Aug 04, 2024 Last updated: Aug 04, 2024	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Clinical Features: Breast carcinoma (present)

Pathogenic (Jul 29, 2024) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	BRCA2-related cancer predisposition (Autosomal dominant inheritance)	All of Us Research Program, National Institutes of Health Accession: SCV004845790.2 First in ClinVar: Apr 20, 2024 Last updated: Dec 14, 2024 Comment: This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more) This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)	Publications: PubMed (11) PubMed: 11802209‚ 16168118‚ 16234499‚ 18703817‚ 23110154‚ 24504028‚ 24728189‚ 25186627‚ 25682074‚ 26681312‚ 9667259 Comment: show This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least eight individuals affected with breast or ovarian cancer and additional suspected hereditary breast and ovarian cancer families (PMID: 9667259, 11802209, 16168118, 16234499, 18703817, 23110154, 24504028, 24728189, 25186627, 25682074, 26681312). This variant has not been identified 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. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Number of individuals with the variant: 5 Zygosity: Single Heterozygote

Pathogenic (Mar 04, 2025) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital Accession: SCV004024414.5 First in ClinVar: Aug 13, 2023 Last updated: Mar 11, 2025	Publications: PubMed (2) PubMed: 25682074‚ 32885271 Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Jun 17, 2021) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided (Autosomal dominant inheritance)	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen Accession: SCV001762063.2 First in ClinVar: Jul 31, 2021 Last updated: Apr 13, 2025	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Clinical Features: Pancreatic adenocarcinoma (present) Sex: female

Pathogenic (Feb 14, 2024) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Breast-ovarian cancer, familial, susceptibility to, 1 (Autosomal dominant inheritance)	Institute of Human Genetics, University of Leipzig Medical Center Accession: SCV004698109.2 First in ClinVar: Mar 10, 2024 Last updated: Apr 13, 2025	Comment: show Criteria applied: PVS1,PM5_STR,PM2_SUP (less) Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: yes Clinical Features: Ovarian carcinoma (present) , Neoplasm of the pancreas (present) , Breast carcinoma (present) Sex: female

Pathogenic (Feb 06, 2024) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hereditary cancer-predisposing syndrome	Color Diagnostics, LLC DBA Color Health Accession: SCV000905014.5 First in ClinVar: May 19, 2019 Last updated: May 03, 2025	Publications: PubMed (11) PubMed: 11802209‚ 16168118‚ 16234499‚ 18703817‚ 23110154‚ 24504028‚ 24728189‚ 25186627‚ 25682074‚ 26681312‚ 9667259 Comment: show This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least eight individuals affected with breast or ovarian cancer and additional suspected hereditary breast and ovarian cancer families (PMID: 9667259, 11802209, 16168118, 16234499, 18703817, 23110154, 24504028, 24728189, 25186627, 25682074, 26681312). This variant has not been identified 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. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Platform type: NGS

Pathogenic (May 15, 2025) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Hereditary breast ovarian cancer syndrome	GeneKor MSA Accession: SCV006311224.1 First in ClinVar: Aug 30, 2025 Last updated: Aug 30, 2025	Publications: PubMed (6) PubMed: 11802209‚ 16168118‚ 20104584‚ 23110154‚ 25682074‚ 26681312 Comment: show This variant is a duplication of T at nucleotide position 5238 in exon 11 of the BRCA2 mRNA c.(5238dupT), causing the creation of a premature translation stop signal at codon 1747 p.(Asn1747*). This is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID:20104584). This variant is not present in population databases (rs80359499). This variant, also known as 5466insT in the literature, has been reported in individuals affected with breast and/or ovarian cancer (PMID:11802209, 23110154, 16168118, 25682074, 26681312). ClinVar contains entries for this variant where is listed as pathogenic (VCV000037954.108). Based on the classification criteria set by the ACMG and AMP (PMID:25741868), this variant has been classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Aug 01, 2024) N Not contributing to aggregate classification	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	not provided	CeGaT Center for Human Genetics Tuebingen Accession: SCV005331119.12 First in ClinVar: Oct 08, 2024 Last updated: Jan 11, 2026	Comment: show BRCA2: PVS1, PM2, PS4:Moderate (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 1

Pathogenic (Jan 11, 2026) N Not contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Hereditary breast ovarian cancer syndrome	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000072631.15 First in ClinVar: Jul 03, 2013 Last updated: Feb 15, 2026	Publications: PubMed (7) PubMed: 11802209‚ 16168118‚ 20104584‚ 23110154‚ 25682074‚ 26681312‚ 28492532 Comment: show This sequence change creates a premature translational stop signal (p.Asn1747*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11802209, 16168118, 23110154, 25682074, 26681312). This variant is also known as 5466insT. ClinVar contains an entry for this variant (Variation ID: 37954). For these reasons, this variant has been classified as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Jan 31, 2014) N Not contributing to aggregate classification	no assertion criteria provided	Hereditary breast ovarian cancer syndrome	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto Study: The Canadian Open Genetics Repository (COGR) Accession: SCV000587753.1 First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017	Observation: 1 Collection method: research Allele origin: germline Affected status: yes Observation 1 Collection method: research Allele origin: germline Affected status: yes

Pathogenic (Dec 28, 2015) N Not contributing to aggregate classification	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 2	Counsyl Accession: SCV000488096.3 First in ClinVar: Nov 05, 2016 Last updated: Jun 29, 2025	Publications: PubMed (5) PubMed: 11802209‚ 16168118‚ 24728189‚ 25186627‚ 9667259 Comment: show This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. (less) Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown

Pathogenic (May 06, 2011) N Not contributing to aggregate classification	no assertion criteria provided	Breast-ovarian cancer, familial 2	Sharing Clinical Reports Project (SCRP) Accession: SCV000054140.4 First in ClinVar: Apr 04, 2013 Last updated: Mar 29, 2015	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: not provided Observation 1 Collection method: clinical testing Allele origin: germline Affected status: not provided

Pathogenic (Jun 11, 2019) N Not contributing to aggregate classification	no assertion criteria provided	Breast and/or ovarian cancer	CZECANCA consortium Accession: SCV001451857.1 First in ClinVar: Dec 26, 2020 Last updated: Dec 26, 2020	Publications: PubMed (1) PubMed: 32295079 Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 1 Ethnicity/Population group: Slavic Geographic origin: Czech Republic

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided	Malignant tumor of breast	Department of Pathology and Laboratory Medicine, Sinai Health System Additional submitter: Franklin by Genoox Study: The Canadian Open Genetics Repository (COGR) Accession: SCV000591954.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021	Comment: show The BRCA2 p.Asn1747X variant was identified in 3 of 1936 proband chromosomes (frequency: 0.002) from German and Czech individuals or families with breast/ovarian or triple negative breast cancers (Meindl 2002, Pohlreich 2005, Pern 2012). The variant was also identified in dbSNP (ID: rs80359499) â€šÃ„ÃºWith Pathogenic alleleâ€šÃ„Ã¹, but no frequency information was provided, thus the prevalence of this variant in the general population could not be determined. The variant was identified in HGMD, the BIC database (9X with pathogenic clinical importance), and in Clinvitae (3x), the ClinVar database by multiple submitters (the Sharing Clinical Reports Project (SCRP) (submitted within the ClinVar database and derived from Myriad reports) as a pathogenic variant, 2X by BIC (both somatic and germline) classification not provided, Invitae, classification not provided, classified as pathogenic by Ambry Genetics, GeneDX and Molecular Diagnostic Laboratory - CHEO ). The c.5238 duplication variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1747 and leads to a premature stop codon at position 1747. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA2 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratoryâ€šÃ„Ã´s criteria to be classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: yes Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: yes

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided	not provided	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001741278.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (-) N Not contributing to aggregate classification	no assertion criteria provided	not provided	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001972057.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Aug 26, 2022) N Not contributing to aggregate classification	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 2	BRCAlab, Lund University Accession: SCV002588883.1 First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Jun 12, 2024) N Not contributing to aggregate classification	no assertion criteria provided	BRCA2-related condition	PreventionGenetics, part of Exact Sciences Accession: SCV004740625.2 First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024	Comment: show The BRCA2 c.5238dupT variant is predicted to result in premature protein termination (p.Asn1747*). This variant has been documented to be pathogenic in multiple unrelated individuals with breast or ovarian cancer [Reported in Table III as 5466insT(1747X) in Meindl et al. 2002. PubMed ID: 11802209; reported as c.5238insT in Pern et al. 2012. PubMed ID: 23110154; reported in Table S1 as S1746fs in Cunningham et al. 2014. PubMed ID: 24504028; reported in Suppl Table 1 as c.5237_5238insT (p.S1746fs) in Schroeder et al. 2015. PubMed ID: 26022348]. This variant has not been reported in a large population database, indicating this variant is rare. It is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/37954/). Nonsense variants in BRCA2 are expected to be pathogenic. This variant is interpreted as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

not provided (-) N Not contributing to aggregate classification	no classification provided	Breast-ovarian cancer, familial 2	Breast Cancer Information Core (BIC) (BRCA2) Accession: SCV000146580.1 First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014	Observation: 6 Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 2 Observation 2 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 2 Geographic origin: Western, Central/Eastern European Observation 3 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 1 Ethnicity/Population group: Caucasian Non Hispanic Observation 4 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 3 Ethnicity/Population group: Western European Observation 5 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 1 Ethnicity/Population group: Western European, English, Irish, German Observation 6 Collection method: clinical testing Allele origin: somatic Affected status: yes Number of individuals with the variant: 1 Ethnicity/Population group: Chinese Geographic origin: Hksar

Comment:

The c.5238dupT pathogenic mutation (also known as p.N1747*), located in coding exon 10 of the BRCA2 gene, results from a duplication of T at nucleotide position 5238. This changes the amino acid from a asparagine to a stop codon within coding exon 10. This mutation has been described in multiple breast and/or ovarian cancer families, including individuals with pre-menopausal and triple negative breast cancer (Frank TS et al. J. Clin. Oncol. 1998 Jul;16(7):2417-25; Meindl A et al. Int. J. Cancer. 2002 Feb;97(4):472-80; Pohlreich P et al. Breast Cancer Res. 2005 Jul;7(5):R728-36; Palma MD et al. Cancer Res. 2008 Sep;68(17):7006-14; Pern F et al. PLoS One. 2012 Oct;7(10):e47993; Wong-Brown MW et al. Breast Cancer Res. Treat. 2015 Feb;150:71-80; Schroeder C et al. Breast Cancer Res. Treat. 2015 Jul;152:129-136). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Of note, this alteration is also designated as 5466insT 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.

Comment:

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; Reported in association with hereditary breast and/or ovarian cancer (Frank 1998, Meindl 2002, Nanda 2005, Pohlreich 2005, van der Hout 2006, Song 2014, Wong-Brown 2015, Frey 2017); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 24504028, 24728189, 26681312, 27856273, 28495237, 28324225, 32295079, 16168118, 18703817, 22430266, 16234499, 15131399, 16683254, 9667259, 23110154, 27157322, 25682074, 11802209, 28454591, 27930734, 26022348, 30702160, 32719484)

Comment:

Variant summary: BRCA2 c.5238dupT (p.Asn1747X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 252034 control chromosomes. c.5238dupT has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Meindl_2002, Nanda_2005, Palma_2008, Pern_2012, Pohlreich_2005, Song_2014). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Multiple clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

Comment:

This frameshift variant causes the premature termination of BRCA2 protein synthesis. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In addition, it has been described in individuals with breast cancer and ovarian cancer (PMID: 26681312 (2015), 25682074 (2015), 25186627 (2015), 24728189 (2014), 22430266 (2012)). Based on the available information, this variant is classified as pathogenic.

Comment:

This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least eight individuals affected with breast or ovarian cancer and additional suspected hereditary breast and ovarian cancer families (PMID: 9667259, 11802209, 16168118, 16234499, 18703817, 23110154, 24504028, 24728189, 25186627, 25682074, 26681312). This variant has not been identified 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.

Comment:

This variant is a duplication of T at nucleotide position 5238 in exon 11 of the BRCA2 mRNA c.(5238dupT), causing the creation of a premature translation stop signal at codon 1747 p.(Asn1747*). This is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID:20104584). This variant is not present in population databases (rs80359499). This variant, also known as 5466insT in the literature, has been reported in individuals affected with breast and/or ovarian cancer (PMID:11802209, 23110154, 16168118, 25682074, 26681312). ClinVar contains entries for this variant where is listed as pathogenic (VCV000037954.108). Based on the classification criteria set by the ACMG and AMP (PMID:25741868), this variant has been classified as pathogenic.

Comment:

This sequence change creates a premature translational stop signal (p.Asn1747*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11802209, 16168118, 23110154, 25682074, 26681312). This variant is also known as 5466insT. ClinVar contains an entry for this variant (Variation ID: 37954). For these reasons, this variant has been classified as Pathogenic.

Comment:

The BRCA2 p.Asn1747X variant was identified in 3 of 1936 proband chromosomes (frequency: 0.002) from German and Czech individuals or families with breast/ovarian or triple negative breast cancers (Meindl 2002, Pohlreich 2005, Pern 2012). The variant was also identified in dbSNP (ID: rs80359499) â€šÃ„ÃºWith Pathogenic alleleâ€šÃ„Ã¹, but no frequency information was provided, thus the prevalence of this variant in the general population could not be determined. The variant was identified in HGMD, the BIC database (9X with pathogenic clinical importance), and in Clinvitae (3x), the ClinVar database by multiple submitters (the Sharing Clinical Reports Project (SCRP) (submitted within the ClinVar database and derived from Myriad reports) as a pathogenic variant, 2X by BIC (both somatic and germline) classification not provided, Invitae, classification not provided, classified as pathogenic by Ambry Genetics, GeneDX and Molecular Diagnostic Laboratory - CHEO ). The c.5238 duplication variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1747 and leads to a premature stop codon at position 1747. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA2 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratoryâ€šÃ„Ã´s criteria to be classified as pathogenic.

Comment:

The BRCA2 c.5238dupT variant is predicted to result in premature protein termination (p.Asn1747*). This variant has been documented to be pathogenic in multiple unrelated individuals with breast or ovarian cancer [Reported in Table III as 5466insT(1747X) in Meindl et al. 2002. PubMed ID: 11802209; reported as c.5238insT in Pern et al. 2012. PubMed ID: 23110154; reported in Table S1 as S1746fs in Cunningham et al. 2014. PubMed ID: 24504028; reported in Suppl Table 1 as c.5237_5238insT (p.S1746fs) in Schroeder et al. 2015. PubMed ID: 26022348]. This variant has not been reported in a large population database, indicating this variant is rare. It is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/37954/). Nonsense variants in BRCA2 are expected to be pathogenic. This variant is interpreted as pathogenic.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.	Murali K	Hereditary cancer in clinical practice	2021	PMID: 34399810
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.	Lerner-Ellis J	Journal of cancer research and clinical oncology	2021	PMID: 32885271
Population genetic screening efficiently identifies carriers of autosomal dominant diseases.	Grzymski JJ	Nature medicine	2020	PMID: 32719484
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.	Bhaskaran SP	International journal of cancer	2019	PMID: 30702160
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?	Zuntini R	Frontiers in genetics	2018	PMID: 30254663
Analysis of protein-coding genetic variation in 60,706 humans.	Lek M	Nature	2016	PMID: 27535533
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.	Susswein LR	Genetics in medicine : official journal of the American College of Medical Genetics	2016	PMID: 26681312
HBOC multi-gene panel testing: comparison of two sequencing centers.	Schroeder C	Breast cancer research and treatment	2015	PMID: 26022348
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S	Genetics in medicine : official journal of the American College of Medical Genetics	2015	PMID: 25741868
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.	Wong-Brown MW	Breast cancer research and treatment	2015	PMID: 25682074
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.	Tung N	Cancer	2015	PMID: 25186627
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.	Song H	Human molecular genetics	2014	PMID: 24728189
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.	Cunningham JM	Scientific reports	2014	PMID: 24504028
Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.	Pern F	PloS one	2012	PMID: 23110154
Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.	Finkelman BS	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	2012	PMID: 22430266
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.	Borg A	Human mutation	2010	PMID: 20104584
The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.	Palma MD	Cancer research	2008	PMID: 18703817
Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.	Nanda R	JAMA	2005	PMID: 16234499
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.	Pohlreich P	Breast cancer research : BCR	2005	PMID: 16168118
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.	Meindl A	International journal of cancer	2002	PMID: 11802209
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.	Frank TS	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	1998	PMID: 9667259
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Record last updated Mar 08, 2026