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NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
4 (Most recent: Sep 9, 2021)
Last evaluated:
Sep 8, 2016
Accession:
VCV000054587.2
Variation ID:
54587
Description:
2bp deletion
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NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs)

Allele ID
69254
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093023-43093024 (GRCh38) GRCh38 UCSC
17: 41245040-41245041 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41245040_41245041del
NC_000017.11:g.43093023_43093024del
NG_005905.2:g.124960_124961del
... more HGVS
Protein change
E789fs, E836fs
Other names
2626delAA
Canonical SPDI
NC_000017.11:43093022:TT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs273899686
Breast Cancer Information Core (BIC) (BRCA1): 2626&base_change=del AA
ClinGen: CA001661
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 reviewed by expert panel Sep 8, 2016 RCV000111881.3
Pathogenic 1 criteria provided, single submitter Dec 1, 2013 RCV001661883.1
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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
(Sep 08, 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: SCV000299780.2
Submitted: (Sep 13, 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: SCV000325378.3
Submitted: (Oct 28, 2016)
Evidence details
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: SCV001877995.1
Submitted: (Sep 09, 2021)
Evidence details
Publications
PubMed (1)
Other databases
https://arup.utah.edu/database/B…
Uncertain significance
(Dec 10, 2009)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144461.1
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
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing. De Leeneer K Breast cancer research and treatment 2012 PMID: 21553119
https://arup.utah.edu/database/BRCA/Variants/BRCA1.php - - - -

Text-mined citations for rs273899686...

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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