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NM_000059.3(BRCA2):c.5593_5594AT[1] (p.Phe1866fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
7 (Most recent: Aug 4, 2017)
Last evaluated:
Sep 8, 2016
Accession:
VCV000037977.1
Variation ID:
37977
Description:
2bp microsatellite
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NM_000059.3(BRCA2):c.5593_5594AT[1] (p.Phe1866fs)

Allele ID
46533
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
13q13.1
Genomic location
13: 32339950-32339951 (GRCh38) GRCh38 UCSC
13: 32914087-32914088 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32914085_32914086AT[1]
NC_000013.11:g.32339948_32339949AT[1]
NM_000059.3:c.5593_5594AT[1] NP_000050.2:p.Phe1866fs frameshift
... more HGVS
Protein change
-
Other names
5823delAT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA022668
dbSNP: rs80359524
Breast Cancer Information Core (BIC) (BRCA2): 5823&base_change=del AT
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 reviewed by expert panel Sep 8, 2016 RCV000031558.6
Pathogenic 1 criteria provided, single submitter Jan 7, 2015 RCV000219038.1
Pathogenic 2 criteria provided, single submitter - RCV000496707.3
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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
11030 11116

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: SCV000300900.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(Jan 07, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000273293.2
Submitted: (May 09, 2016)
Evidence details
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: SCV000327240.3
Submitted: (Oct 28, 2016)
Evidence details
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Department of Pathology and Laboratory Medicine,Sinai Health System
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591976.1
Submitted: (Apr 19, 2017)
Evidence details
Pathogenic
(Aug 25, 1998)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146640.1
Submitted: (Mar 28, 2014)
Evidence details
Pathogenic
(Oct 29, 2012)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000054163.5
Submitted: (Dec 29, 2015)
Evidence details
Pathogenic
(Jan 31, 2014)
no assertion criteria provided
Method: research
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587777.1
Submitted: (Aug 04, 2017)
Evidence details

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 16, 2020