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NM_007294.3(BRCA1):c.5152+85del

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Interpretation:
Benign​

Review status:
reviewed by expert panel
Submissions:
4 (Most recent: Mar 31, 2021)
Last evaluated:
Jan 12, 2015
Accession:
VCV000125782.3
Variation ID:
125782
Description:
1bp deletion
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NM_007294.3(BRCA1):c.5152+85del

Allele ID
131320
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43063789 (GRCh38) GRCh38 UCSC
17: 41215806 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
U14680.1:n.5271+85delT
LRG_292:g.154195del
LRG_292t1:c.5152+85del
... more HGVS
Protein change
-
Other names
IVS18+85delT
IVS 18+85del
Canonical SPDI
NC_000017.11:43063788:AAAAA:AAAA
Functional consequence
-
Global minor allele frequency (GMAF)
0.02516 (AAAA)

Allele frequency
-
Links
dbSNP: rs8176259
Breast Cancer Information Core (BIC) (BRCA1): 5271+85&base_change=del T
ClinGen: CA268337
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 reviewed by expert panel Jan 12, 2015 RCV000112528.3
Likely benign 1 no assertion criteria provided - RCV000500180.1
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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
11971 12138

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2015)
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: SCV000244610.1
Submitted: (Aug 17, 2015)
Evidence details
Comment:
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1 (African), derived from 1000 genomes (2012-04-30).
Benign
(Sep 21, 2015)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744595.1
Submitted: (Apr 09, 2018)
Evidence details
Uncertain significance
(Dec 17, 2010)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145350.1
Submitted: (Mar 28, 2014)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591586.2
Submitted: (Mar 31, 2021)
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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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 rs8176259...

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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 07, 2021