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NM_005996.4(TBX3):c.-895_-894TC[18]

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000307403.2
Variation ID:
307403
Description:
12bp microsatellite
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NM_005996.4(TBX3):c.-895_-894TC[18]

Allele ID
329658
Variant type
Microsatellite
Variant length
12 bp
Cytogenetic location
12q24.21
Genomic location
12: 114684071-114684072 (GRCh38) GRCh38 UCSC
12: 115121876-115121877 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.115121877_115121878GA[18]
NC_000012.12:g.114684072_114684073GA[18]
NG_008315.1:g.5070_5071TC[18]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:114684071:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Functional consequence
-
Global minor allele frequency (GMAF)
0.46825 (GAGAGAGAGAGAGAGAGAGAGAGA)

Allele frequency
-
Links
ClinGen: CA10640407
dbSNP: rs57078153
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000353044.2
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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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ulnar-Mammary Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000376609.2
Submitted: (Oct 18, 2016)
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 rs57078153...

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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