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NM_005996.4(TBX3):c.-198T>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 20, 2021)
Last evaluated:
Dec 1, 2018
Accession:
VCV000307384.4
Variation ID:
307384
Description:
single nucleotide variant
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NM_005996.4(TBX3):c.-198T>C

Allele ID
316155
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 114683398 (GRCh38) GRCh38 UCSC
12: 115121203 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.115121203A>G
NC_000012.12:g.114683398A>G
NG_008315.1:g.5767T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:114683397:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.15915 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.15736
1000 Genomes Project 0.15915
Trans-Omics for Precision Medicine (TOPMed) 0.14780
Links
ClinGen: CA10632114
dbSNP: rs12366395
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 Jan 13, 2018 RCV000273487.2
Benign 1 criteria provided, single submitter Dec 1, 2018 RCV001540297.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBX3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
129 198
TBX3-AS1 - - - GRCh38 - 63

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Ulnar-mammary syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376590.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 01, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001758169.1
Submitted: (Jul 20, 2021)
Evidence details

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 rs12366395...

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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 Oct 08, 2021