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NM_000059.3(BRCA2):c.6018T>A (p.Ser2006Arg)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Mar 30, 2013)
Accession:
VCV000051988.1
Variation ID:
51988
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.6018T>A (p.Ser2006Arg)

Allele ID
66656
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32340373 (GRCh38) GRCh38 UCSC
13: 32914510 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32914510T>A
NC_000013.11:g.32340373T>A
NM_000059.3:c.6018T>A NP_000050.2:p.Ser2006Arg missense
... more HGVS
Protein change
S2006R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA023523
dbSNP: rs397507821
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000577337.1
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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
11030 11116

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: literature only
Familial cancer of breast
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000678793.1
Submitted: (Mar 30, 2013)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells. Balia C Breast cancer research and treatment 2011 PMID: 21671020

Record last updated Jan 16, 2020