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NM_007299.4(BRCA1):c.2021-1458del

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
1 (Most recent: Sep 13, 2016)
Last evaluated:
Sep 8, 2016
Accession:
VCV000254468.1
Variation ID:
254468
Description:
1bp deletion
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NM_007299.4(BRCA1):c.2021-1458del

Allele ID
249075
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43049161 (GRCh38) GRCh38 UCSC
17: 41201178 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41201178del
NC_000017.11:g.43049161del
NM_007294.3:c.5366del NP_009225.1:p.Ala1789fs frameshift
... more HGVS
Protein change
A1789fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA054762
dbSNP: rs760188581
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 reviewed by expert panel Sep 8, 2016 RCV000240994.1
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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
7692 7840

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: SCV000300250.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 09, 2020