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NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
8 (Most recent: Sep 9, 2021)
Last evaluated:
Apr 22, 2016
Accession:
VCV000054489.6
Variation ID:
54489
Description:
14bp deletion
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NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)

Allele ID
69156
Variant type
Deletion
Variant length
14 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093330-43093343 (GRCh38) GRCh38 UCSC
17: 41245347-41245360 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41245354_41245367del
NC_000017.11:g.43093337_43093350del
NG_005905.2:g.124641_124654del
... more HGVS
Protein change
E683fs, E730fs
Other names
2307del14
2307_2320del14
Canonical SPDI
NC_000017.11:43093329:TTCTCTTCTTTTTCTTCTCTT:TTCTCTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Breast Cancer Information Core (BIC) (BRCA1): 2307&base_change=del GAAAAAGAAGAGAA
ClinGen: CA001460
dbSNP: rs273898681
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 reviewed by expert panel Apr 22, 2016 RCV000111784.3
Pathogenic 1 criteria provided, single submitter Nov 16, 2018 RCV000985382.1
Pathogenic 1 criteria provided, single submitter Mar 14, 2020 RCV001390606.1
Pathogenic 1 criteria provided, single submitter Aug 4, 2020 RCV001525607.1
Pathogenic 1 criteria provided, single submitter Dec 1, 2013 RCV001661815.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
12270 12437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 22, 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: SCV000282274.1
Submitted: (Jun 09, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Likely pathogenic
(Jul 25, 2017)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: unknown
Counsyl
Accession: SCV000785409.2
Submitted: (Jun 20, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Nov 16, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133517.2
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in … (more)
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: SCV000325277.3
Submitted: (Oct 28, 2016)
Evidence details
Pathogenic
(Mar 14, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001592394.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Glu730Thrfs*5) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Aug 04, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001735774.1
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This variant deletes 14 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
Pathogenic
(Dec 01, 2013)
criteria provided, single submitter
Method: curation
Breast-ovarian cancer, familial 1
Breast-ovarian cancer, familial 2
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Research and Development, ARUP Laboratories
Accession: SCV001877926.1
Submitted: (Sep 09, 2021)
Evidence details
Publications
PubMed (1)
Other databases
https://arup.utah.edu/database/B…
Pathogenic
(Dec 20, 2005)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144326.1
Submitted: (Mar 28, 2014)
Evidence details

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
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. Hondow HL BMC cancer 2011 PMID: 21702907
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
Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers. Lim E Nature medicine 2009 PMID: 19648928
The breast cancer information core: database design, structure, and scope. Szabo C Human mutation 2000 PMID: 10923033
https://arup.utah.edu/database/BRCA/Variants/BRCA1.php - - - -

Text-mined citations for rs273898681...

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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 Sep 18, 2021