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NM_000059.3(BRCA2):c.5855T>A (p.Leu1952Ter)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
6 (Most recent: Jul 30, 2018)
Last evaluated:
Sep 8, 2016
Accession:
VCV000038002.1
Variation ID:
38002
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.5855T>A (p.Leu1952Ter)

Allele ID
46558
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32340210 (GRCh38) GRCh38 UCSC
13: 32914347 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.32340210T>A
NC_000013.10:g.32914347T>A
LRG_293t1:c.5855T>A LRG_293p1:p.Leu1952Ter
... more HGVS
Protein change
L1952*
Other names
6083T>A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
dbSNP: rs375064902
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 reviewed by expert panel Sep 8, 2016 RCV000031583.6
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 10, 2018 RCV000149889.2
Pathogenic 1 criteria provided, single submitter Jul 21, 2017 RCV000563543.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
10748 10826

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 2
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300942.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(Jan 10, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000758806.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Leu1952*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein ... (more)
Pathogenic
(Jul 21, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000661266.2
Submitted: (Jul 30, 2018)
Evidence details
Publications
PubMed (4)
Comment:
Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Likely pathogenic
(Jun 01, 2014)
criteria provided, single submitter
Method: research
Hereditary breast and ovarian cancer
(Autosomal dominant inheritance)
Allele origin: germline
CSER_CC_NCGL; University of Washington Medical Center
Study: ESP 6500 variant annotation
Accession: SCV000196737.2
Submitted: (Nov 22, 2015)
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 02, 2015)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000327299.3
Submitted: (Oct 28, 2016)
Evidence details
Pathogenic
(May 01, 2012)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000054189.5
Submitted: (Dec 30, 2013)
Evidence details

Citations for this variant

Title Author Journal Year Link
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. Natarajan P Science translational medicine 2016 PMID: 27831900
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. Münz M Genome medicine 2015 PMID: 26315209
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Amendola LM Genome research 2015 PMID: 25637381
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Dorschner MO American journal of human genetics 2013 PMID: 24055113
BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines. De Leon Matsuda ML International journal of cancer 2002 PMID: 11920621

Record last updated Oct 11, 2019