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NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)

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Interpretation:
Benign​

Review status:
reviewed by expert panel
Submissions:
9 (Most recent: Mar 31, 2021)
Last evaluated:
Jun 29, 2017
Accession:
VCV000182284.9
Variation ID:
182284
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)

Allele ID
180573
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32336500 (GRCh38) GRCh38 UCSC
13: 32910637 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32910637A>G
NM_000059.3:c.2145A>G NP_000050.2:p.Gly715= synonymous
LRG_293:g.26021A>G
... more HGVS
Protein change
-
Other names
p.G715G:GGA>GGG
Canonical SPDI
NC_000013.11:32336499:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00059
The Genome Aggregation Database (gnomAD) 0.00064
The Genome Aggregation Database (gnomAD), exomes 0.00009
1000 Genomes Project 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
The Genome Aggregation Database (gnomAD) 0.00056
Links
ClinGen: CA014444
dbSNP: rs112566179
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 reviewed by expert panel Jun 29, 2017 RCV000495123.4
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts May 29, 2018 RCV000160214.2
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 30, 2015 RCV000162803.3
Benign 1 criteria provided, single submitter Jun 13, 2018 RCV000759589.4
Benign 1 criteria provided, single submitter Nov 24, 2020 RCV001079130.2
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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
13784 13899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 29, 2017)
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: SCV000578023.2
Submitted: (Jun 29, 2017)
Evidence details
Comment:
Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0014 (African), derived from ExAC (2014-12-17).
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600502.1
Submitted: (Aug 01, 2017)
Evidence details
Publications
PubMed (1)
Benign
(Sep 30, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000683470.1
Submitted: (Oct 26, 2017)
Evidence details
Benign
(Jun 22, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000210575.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(May 29, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000861269.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889005.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Jul 10, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000213284.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000252606.9
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001549664.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The BRCA2 p.Gly715= variant was identified in 1 of 820 proband chromosomes (frequency: 0.001) from individuals or families with breast cancer (Fackenthal 2012). The variant … (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
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. Fackenthal JD International journal of cancer 2012 PMID: 22034289
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA2 - - - -

Text-mined citations for rs112566179...

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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 Nov 27, 2021