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NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(2); Likely benign(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5
First in ClinVar:
Aug 28, 2017
Most recent Submission:
Nov 29, 2022
Last evaluated:
Oct 4, 2022
Accession:
VCV000434532.16
Variation ID:
434532
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

Allele ID
429495
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32340778 (GRCh38) GRCh38 UCSC
13: 32914915 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000059.4:c.6423T>G MANE Select NP_000050.3:p.Gly2141= synonymous
NC_000013.11:g.32340778T>G
NC_000013.10:g.32914915T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:32340777:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs780721021
ClinGen: CA6940952
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 9, 2021 RCV000812649.7
Uncertain significance 1 criteria provided, single submitter Aug 10, 2019 RCV000985565.3
Likely benign 1 criteria provided, single submitter Oct 4, 2022 RCV002367683.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 31, 2020 RCV000502553.7
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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
16317 16444

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Oct 23, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: no
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000593751.1
First in ClinVar: Aug 28, 2017
Last updated: Aug 28, 2017
Likely benign
(Jan 31, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: unknown
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001361754.1
First in ClinVar: Jun 22, 2020
Last updated: Jun 22, 2020
Uncertain significance
(Aug 10, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133863.2
First in ClinVar: Jan 05, 2020
Last updated: Jan 01, 2022
Likely benign
(Dec 09, 2021)
criteria provided, single submitter
Method: clinical testing
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000952969.4
First in ClinVar: Aug 14, 2019
Last updated: May 16, 2022
Likely benign
(Oct 04, 2022)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin: germline
Ambry Genetics
Accession: SCV002658593.1
First in ClinVar: Nov 29, 2022
Last updated: Nov 29, 2022
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)
Number of individuals with the variant: 1

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 rs780721021...

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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 29, 2022