This sequence change creates a premature translational stop signal (p.Arg347*) in the TAB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TAB2 are known to be pathogenic (PMID: 28386937, 31250519). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with TAB2-related conditions (PMID: 29700987). ClinVar contains an entry for this variant (Variation ID: 373443). For these reasons, this variant has been classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic/Likely pathogenic
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 3
- First in ClinVar:
- Jan 9, 2017
- Most recent Submission:
- Mar 4, 2023
- Last evaluated:
- Apr 11, 2022
- Accession:
- VCV000373443.7
- Variation ID:
- 373443
- Description:
- single nucleotide variant
Help
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)
- Allele ID
- 359762
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 6q25.1
- Genomic location
- 6: 149378954 (GRCh38) GRCh38 UCSC
- 6: 149700090 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001292034.3:c.1039C>T MANE Select NP_001278963.1:p.Arg347Ter nonsense NM_001292035.3:c.943C>T NP_001278964.1:p.Arg315Ter nonsense NM_001369506.1:c.1039C>T NP_001356435.1:p.Arg347Ter nonsense NM_015093.6:c.1039C>T NP_055908.1:p.Arg347Ter nonsense NC_000006.12:g.149378954C>T NC_000006.11:g.149700090C>T NG_021386.2:g.166031C>T - Protein change
- R347*, R315*
- Other names
- -
- Canonical SPDI
- NC_000006.12:149378953:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA16042659
- dbSNP: rs1057518422
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 2 | criteria provided, multiple submitters, no conflicts | Apr 11, 2022 | RCV000412798.5 | |
| Likely pathogenic | 1 | criteria provided, single submitter | Jan 1, 2017 | RCV000626800.3 |
Help
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
115 | 248 | |
| LOC126859827 | - | - | - | GRCh38 | - | 111 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely pathogenic
(Jan 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747503.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
|
|
|
Pathogenic
(Apr 11, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV003459969.1
First in ClinVar: Feb 07, 2023 Last updated: Feb 07, 2023 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg347*) in the TAB2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg347*) in the TAB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TAB2 are known to be pathogenic (PMID: 28386937, 31250519). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with TAB2-related conditions (PMID: 29700987). ClinVar contains an entry for this variant (Variation ID: 373443). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Jun 10, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000492035.4
First in ClinVar: Jan 09, 2017 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29700987, 27535533) (less)
|
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| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. | Morlino S | Human mutation | 2019 | PMID: 31250519 |
| Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family. | Caulfield TR | Molecular genetics & genomic medicine | 2018 | PMID: 29700987 |
| A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. | Ritelli M | Clinical genetics | 2018 | PMID: 28386937 |
Text-mined citations for rs1057518422...
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 Sep 09, 2023