Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)

Help
Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
6 (Most recent: Nov 30, 2020)
Last evaluated:
Oct 18, 2016
Accession:
VCV000266252.3
Variation ID:
266252
Description:
1bp duplication
Help

NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)

Allele ID
261845
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093184-43093185 (GRCh38) GRCh38 UCSC
17: 41245201-41245202 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41245202dup
NC_000017.11:g.43093185dup
NM_007294.4:c.2346dup MANE Select NP_009225.1:p.Ile783fs frameshift
... more HGVS
Protein change
I736fs, I783fs
Other names
2465insT
Canonical SPDI
NC_000017.11:43093184:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10589860
dbSNP: rs886040027
Varsome
Help

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 RCV000257107.2
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Feb 14, 2017 RCV000465165.1
Likely pathogenic 1 criteria provided, single submitter Aug 23, 2016 RCV000507973.1
Pathogenic 1 criteria provided, single submitter Oct 3, 2016 RCV000509736.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
12287 12455

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 18, 2016)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 1
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323441.1
Submitted: (Oct 18, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(Oct 02, 2015)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325329.3
Submitted: (Oct 28, 2016)
Evidence details
Pathogenic
(Nov 26, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000549404.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change inserts 1 nucleotide in exon 10 of the BRCA1 mRNA (c.2346dupT), causing a frameshift at codon 783. This creates a premature translational … (more)
Likely pathogenic
(Aug 23, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600284.1
Submitted: (Aug 01, 2017)
Evidence details
Likely pathogenic
(Feb 14, 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: SCV000698941.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The BRCA1 c.2346dupT (p.Ile783Tyrfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense … (more)
Pathogenic
(Oct 03, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000607935.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.2346dupT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of T at nucleotide position 2346, causing a … (more)

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs886040027...

Help
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 Jun 14, 2021