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NM_007294.3(BRCA1):c.5333-153A>G

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Interpretation:
Benign​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Oct 26, 2017)
Last evaluated:
Jan 12, 2015
Accession:
VCV000209248.1
Variation ID:
209248
Description:
single nucleotide variant
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NM_007294.3(BRCA1):c.5333-153A>G

Allele ID
206206
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43049347 (GRCh38) GRCh38 UCSC
17: 41201364 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41201364T>C
NC_000017.11:g.43049347T>C
NM_007297.4:c.5192-153A>G
... more HGVS
Protein change
-
Other names
IVS 21-153A>G
Canonical SPDI
NC_000017.11:43049346:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.03215 (C)

Allele frequency
1000 Genomes Project 0.03215
The Genome Aggregation Database (gnomAD) 0.05237
Trans-Omics for Precision Medicine (TOPMed) 0.05026
Links
ClinGen: CA276220
dbSNP: rs8176305
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 reviewed by expert panel Jan 12, 2015 RCV000191191.1
Benign 1 criteria provided, single submitter Mar 31, 2015 RCV000580512.1
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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
11378 11533

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: SCV000244536.1
Submitted: (Aug 17, 2015)
Evidence details
Comment:
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.08443 (European), derived from 1000 genomes (2012-04-30).
Benign
(Mar 31, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000683291.1
Submitted: (Oct 26, 2017)
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 rs8176305...

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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 Jan 09, 2021