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NM_000059.3(BRCA2):c.5200dup (p.Glu1734fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 5, 2021)
Last evaluated:
Apr 30, 2021
Accession:
VCV000495468.4
Variation ID:
495468
Description:
1bp duplication
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NM_000059.3(BRCA2):c.5200dup (p.Glu1734fs)

Allele ID
487540
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32339554-32339555 (GRCh38) GRCh38 UCSC
13: 32913691-32913692 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32913692dup
NC_000013.11:g.32339555dup
NM_000059.3:c.5200dup NP_000050.2:p.Glu1734fs frameshift
... more HGVS
Protein change
E1734fs
Other names
-
Canonical SPDI
NC_000013.11:32339554:G:GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658683841
dbSNP: rs1555284103
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 6, 2020 RCV000588702.4
Pathogenic 1 criteria provided, single submitter Apr 30, 2021 RCV001552836.1
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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
14102 14215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 12, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694840.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The BRCA2 c.5200dupG (p.Glu1734Glyfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense … (more)
Pathogenic
(Mar 06, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000758817.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Glu1734Glyfs*9) in the BRCA2 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Apr 30, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001773603.1
Submitted: (Aug 05, 2021)
Evidence details
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
LOVD v.2.0: the next generation in gene variant databases. Fokkema IF Human mutation 2011 PMID: 21520333
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 rs1555284103...

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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 Aug 17, 2021