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NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
7
First in ClinVar:
Oct 22, 2016
Most recent Submission:
Mar 4, 2023
Last evaluated:
Oct 18, 2016
Accession:
VCV000267050.19
Variation ID:
267050
Description:
1bp duplication
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NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)

Allele ID
261447
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32363217-32363218 (GRCh38) GRCh38 UCSC
13: 32937354-32937355 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000059.4:c.8021dup MANE Select NP_000050.3:p.Ile2675fs frameshift
NM_000059.3:c.8021dupA
NC_000013.11:g.32363223dup
... more HGVS
Protein change
I2675fs
Other names
8249insA
Canonical SPDI
NC_000013.11:32363217:AAAAAA:AAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10589464
dbSNP: rs397507952
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 reviewed by expert panel Oct 18, 2016 RCV000256831.6
Pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 6, 2020 RCV000563722.5
Pathogenic 1 criteria provided, single submitter Jun 4, 2019 RCV000482911.4
Pathogenic 1 criteria provided, single submitter Apr 2, 2020 RCV001310178.2
Pathogenic 1 criteria provided, single submitter Nov 2, 2021 RCV001222561.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
16959 17098

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Oct 18, 2016)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000324614.2
First in ClinVar: Oct 22, 2016
Last updated: Feb 07, 2023
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(Apr 02, 2020)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin: germline
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499773.1
First in ClinVar: Mar 07, 2021
Last updated: Mar 07, 2021
Pathogenic
(Oct 06, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin: germline
Color Diagnostics, LLC DBA Color Health
Accession: SCV001736609.1
First in ClinVar: Jun 19, 2021
Last updated: Jun 19, 2021
Comment:
This variant inserts 1 nucleotide in exon 18 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
Pathogenic
(May 26, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin: germline
Ambry Genetics
Accession: SCV000661432.4
First in ClinVar: Jan 01, 2018
Last updated: Nov 29, 2022
Publications:
PubMed (1)
PubMed: 26787237
Comment:
The c.8021dupA pathogenic mutation, located in coding exon 17 of the BRCA2 gene, results from a duplication of A at nucleotide position 8021, causing a … (more)
Number of individuals with the variant: 1
Pathogenic
(Oct 02, 2015)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin: germline
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000327799.4
First in ClinVar: Nov 05, 2016
Last updated: Dec 11, 2022
Pathogenic
(Nov 02, 2021)
criteria provided, single submitter
Method: clinical testing
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001394665.4
First in ClinVar: Jul 16, 2020
Last updated: Feb 07, 2023
Publications:
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Ile2675Aspfs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jun 04, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000565763.6
First in ClinVar: Apr 27, 2017
Last updated: Mar 04, 2023
Comment:
Frameshift 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; Not … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer. Li JY International journal of cancer 2019 PMID: 29752822
BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. Li A Gynecologic oncology 2018 PMID: 30078507
Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes. Hirotsu Y Oncotarget 2017 PMID: 29383094
Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. Meric-Bernstam F Annals of oncology : official journal of the European Society for Medical Oncology 2016 PMID: 26787237
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

Text-mined citations for rs397507952...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Mar 26, 2023