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, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ClinVar Genomic variation as it relates to human health
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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
Help
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
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_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 NG_012772.3:g.30299T>G LRG_293:g.30299T>G LRG_293t1:c.6423T>G LRG_293p1:p.Gly2141= - 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
Help
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 |
Help
| 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
Help| 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)
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, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Number of individuals with the variant: 1
|
Functional evidence
Help| 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
Help| 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...
HelpThese 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