Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_007294.4(BRCA1):c.*873del

Help
Interpretation:
Benign​

Review status:
reviewed by expert panel
Submissions:
3 (Most recent: Oct 18, 2016)
Last evaluated:
Sep 28, 2016
Accession:
VCV000264856.1
Variation ID:
264856
Description:
1bp deletion
Help

NM_007294.4(BRCA1):c.*873del

Allele ID
259534
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43044805 (GRCh38) GRCh38 UCSC
17: 41196822 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41196840del
NC_000017.11:g.43044823del
NM_007294.4:c.*873del MANE Select 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:43044804:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
0.49800 (TTTTTTTTTTTTTTTTTTT)

Allele frequency
-
Links
ClinGen: CA8589936
dbSNP: rs59541324
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 Sep 28, 2016 RCV000255560.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 14, 2016 RCV000363639.1
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
12270 12437

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 28, 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: SCV000321162.1
Submitted: (Oct 04, 2016)
Evidence details
Comment:
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.5358 (European), 0.4924 (African), 0.464 (Admixed American/Latino), 0.4583 (East Asian), 0.5521 (South … (more)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Breast and Ovarian Cancer
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000403039.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Breast and Ovarian Cancer
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000403037.2
Submitted: (Oct 18, 2016)
Evidence details

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 rs59541324...

Help
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 Apr 18, 2021