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NM_000059.3(BRCA2):c.3206C>T (p.Ser1069Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Oct 16, 2019)
Last evaluated:
Jul 23, 2019
Accession:
VCV000051423.4
Variation ID:
51423
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.3206C>T (p.Ser1069Phe)

Allele ID
66091
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32337561 (GRCh38) GRCh38 UCSC
13: 32911698 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32911698C>T
NC_000013.11:g.32337561C>T
NM_000059.3:c.3206C>T NP_000050.2:p.Ser1069Phe missense
... more HGVS
Protein change
S1069F
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA017538
dbSNP: rs80358563
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 10, 2018 RCV000044147.4
Uncertain significance 2 criteria provided, single submitter May 8, 2017 RCV000113147.1
Uncertain significance 1 criteria provided, single submitter Apr 6, 2016 RCV000165150.2
Uncertain significance 1 criteria provided, single submitter May 21, 2018 RCV000781122.1
Uncertain significance 1 criteria provided, single submitter Jul 23, 2019 RCV000985496.1
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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
11031 11117

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 08, 2017)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: unknown
Counsyl
Accession: SCV000785152.2
Submitted: (Jun 20, 2018)
Evidence details
Uncertain significance
(Apr 06, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215861.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence
Uncertain significance
(May 21, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000918970.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: BRCA2 c.3206C>T (p.Ser1069Phe) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging ... (more)
Uncertain significance
(Dec 10, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000072160.5
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces serine with phenylalanine at codon 1069 of the BRCA2 protein (p.Ser1069Phe). The serine residue is moderately conserved and there is a ... (more)
Uncertain significance
(Jul 23, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133747.1
Submitted: (Oct 16, 2019)
Evidence details
Uncertain significance
(Dec 23, 2003)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146190.1
Submitted: (Mar 28, 2014)
Evidence details

Citations for this variant

Title Author Journal Year Link
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Tung N Cancer 2015 PMID: 25186627
APRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancer. Brough R The EMBO journal 2012 PMID: 22293751
The breast cancer information core: database design, structure, and scope. Szabo C Human mutation 2000 PMID: 10923033

Record last updated Jan 24, 2020