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_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)

Help
Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: May 21, 2018)
Last evaluated:
Dec 15, 2017
Accession:
VCV000252407.1
Variation ID:
252407
Description:
7bp indel
Help

NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)

Allele ID
246785
Variant type
Indel
Variant length
7 bp
Cytogenetic location
13q13.1
Genomic location
13: 32319090-32319092 (GRCh38) GRCh38 UCSC
13: 32893227-32893229 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32893227_32893229delinsTAAGACT
NC_000013.11:g.32319090_32319092delinsTAAGACT
LRG_293t1:c.81_83delinsTAAGACT LRG_293p1:p.Ser28fs
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:32319089:AAG:TAAGACT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10585890
dbSNP: rs879255300
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 reviewed by expert panel Dec 15, 2017 RCV000238797.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
14102 14215

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 15, 2017)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 2
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study: ENIGMA
Accession: SCV000784115.1
Submitted: (May 21, 2018)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Likely pathogenic
(May 21, 2016)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
(Autosomal dominant inheritance)
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296506.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)

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
Title Author Journal Year Link
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory. Strom CM PloS one 2015 PMID: 26295337

Text-mined citations for rs879255300...

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 01, 2021