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NM_000059.3(BRCA2):c.338G>A (p.Arg113Lys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 16, 2020
Accession:
VCV000231439.7
Variation ID:
231439
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.338G>A (p.Arg113Lys)

Allele ID
234604
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32325097 (GRCh38) GRCh38 UCSC
13: 32899234 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32899234G>A
NC_000013.11:g.32325097G>A
NM_000059.3:c.338G>A NP_000050.2:p.Arg113Lys missense
... more HGVS
Protein change
R113K
Other names
-
Canonical SPDI
NC_000013.11:32325096:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10579454
dbSNP: rs876659161
Varsome
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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 12, 2017 RCV000478500.1
Uncertain significance 1 criteria provided, single submitter Apr 16, 2020 RCV000637720.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 10, 2019 RCV000215283.2
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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
14102 14215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 12, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000571999.5
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted BRCA2 c.338G>A at the cDNA level, p.Arg113Lys (R113K) at the protein level, and results in the change of an Arginine to … (more)
Uncertain significance
(Oct 10, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001357692.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces arginine with lysine at codon 113 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Evidence details
Likely benign
(May 16, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000275287.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification
Uncertain significance
(Apr 16, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000759193.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with lysine at codon 113 of the BRCA2 protein (p.Arg113Lys). The arginine residue is weakly conserved and there is a … (more)

Functional evidence

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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

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs876659161...

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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 18, 2021