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NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Nov 30, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000495729.5
Variation ID:
495729
Description:
single nucleotide variant
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NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)

Allele ID
487554
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 114355855 (GRCh38) GRCh38 UCSC
12: 114793660 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.114793660C>T
NC_000012.12:g.114355855C>T
NG_007373.1:g.57588G>A
... more HGVS
Protein change
V412I, V362I
Other names
-
Canonical SPDI
NC_000012.12:114355854:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00311
The Genome Aggregation Database (gnomAD) 0.00280
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00323
Trans-Omics for Precision Medicine (TOPMed) 0.00341
The Genome Aggregation Database (gnomAD) 0.00301
1000 Genomes Project 0.00319
Links
ClinGen: CA6809375
dbSNP: rs114124210
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 27, 2017 RCV000588683.3
Benign 1 criteria provided, single submitter Jun 1, 2017 RCV000615903.1
Likely benign 1 criteria provided, single submitter Dec 19, 2018 RCV000619805.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV001085662.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBX5 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
357 375

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695948.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The c.1234G>A (p.Val412Ile) in TBX5 gene is a missense change that involves a conserved nucleotide and 2/4 in silico tools predict deleterious outcome. … (more)
Benign
(Jun 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000715441.1
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)
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Aortic valve disease 2
Allele origin: germline
Invitae
Accession: SCV001003110.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Dec 19, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735404.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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 rs114124210...

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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