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NM_005996.4(TBX3):c.1190del (p.Phe397fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 23, 2020)
Last evaluated:
Oct 23, 2020
Accession:
VCV000987156.1
Variation ID:
987156
Description:
1bp deletion
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NM_005996.4(TBX3):c.1190del (p.Phe397fs)

Allele ID
975342
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 115112490 (GRCh37) GRCh37 UCSC
12: 114674685 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_016569.4:c.1250del NP_057653.3:p.Phe417fs frameshift
NC_000012.11:g.115112493del
NC_000012.12:g.114674688del
... more HGVS
Protein change
F397fs, F417fs
Other names
-
Canonical SPDI
NC_000012.12:114674684:AAAA:AAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1868624031
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 23, 2020 RCV001268415.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBX3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
129 198

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
(Autosomal dominant inheritance)
Allele origin: germline
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447338.1
Submitted: (Oct 23, 2020)
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 rs1868624031...

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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