Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.08443 (European), derived from 1000 genomes (2012-04-30).
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Benign
- Review status:
- reviewed by expert panel
- Submissions:
- 3
- First in ClinVar:
- Sep 29, 2015
- Most recent Submission:
- Sep 24, 2021
- Last evaluated:
- Jan 12, 2015
- Accession:
- VCV000209248.3
- Variation ID:
- 209248
- Description:
- single nucleotide variant
Help
NM_007294.4(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
- ... more HGVS ... less 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
- Trans-Omics for Precision Medicine (TOPMed) 0.05026
- 1000 Genomes Project 0.03215
- The Genome Aggregation Database (gnomAD) 0.05237
- The Genome Aggregation Database (gnomAD) 0.05513
- Trans-Omics for Precision Medicine (TOPMed) 0.05022
- Links
- ClinGen: CA276220
- dbSNP: rs8176305
- VarSome
Help
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 | RCV000191191.2 | |
| Benign | 1 | criteria provided, single submitter | Mar 31, 2015 | RCV000580512.2 | |
| Benign | 1 | criteria provided, single submitter | Jun 24, 2018 | RCV001682898.2 |
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 |
12655 | 12838 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Benign
(Jan 12, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244536.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
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
Affected status: unknown
Allele origin:
germline
|
Color Health, Inc
Accession: SCV000683291.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
|
|
|
Benign
(Jun 24, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001904783.1
First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
|
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 rs8176305...
HelpThese 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 Jul 30, 2022