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NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)

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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:
Jun 12, 2020
Accession:
VCV000185491.6
Variation ID:
185491
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)

Allele ID
185017
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093031 (GRCh38) GRCh38 UCSC
17: 41245048 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_007294.3:c.2500G>C NP_009225.1:p.Gly834Arg missense
NC_000017.10:g.41245048C>G
NC_000017.11:g.43093031C>G
... more HGVS
Protein change
G834R, G787R
Other names
-
Canonical SPDI
NC_000017.11:43093030:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA001658
dbSNP: rs786202215
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 Feb 9, 2017 RCV000590464.1
Uncertain significance 1 criteria provided, single submitter Jun 12, 2020 RCV000695556.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 16, 2020 RCV000164931.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
12038 12206

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 25, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215620.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification
Uncertain significance
(Feb 09, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698963.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The BRCA1 c.2500G>C (p.Gly834Arg) variant involves the alteration of a non-conserved nucleotide and is predicted to be benign by 3/4 in silico tools … (more)
Uncertain significance
(Mar 16, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001340806.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces glycine with arginine at codon 834 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
Evidence details
Uncertain significance
(Jun 12, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000824065.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with arginine at codon 834 of the BRCA1 protein (p.Gly834Arg). The glycine 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs786202215...

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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 Oct 08, 2021