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NM_001379200.1(TBX1):c.1380T>C (p.His460=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 10, 2021)
Last evaluated:
Jan 21, 2021
Accession:
VCV000518488.9
Variation ID:
518488
Description:
single nucleotide variant
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NM_001379200.1(TBX1):c.1380T>C (p.His460=)

Allele ID
510877
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.21
Genomic location
22: 19766732 (GRCh38) GRCh38 UCSC
22: 19754255 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.19754255T>C
LRG_226:g.15030T>C
LRG_226t1:c.1353T>C LRG_226p1:p.His451=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:19766731:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00078
1000 Genomes Project 0.00300
Links
ClinGen: CA10102730
dbSNP: rs367711718
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 21, 2021 RCV000713777.6
Likely benign 1 criteria provided, single submitter Jun 24, 2015 RCV000618894.1
Benign 1 criteria provided, single submitter Nov 29, 2020 RCV001080661.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBX1 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
329 719

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 08, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844407.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Jun 24, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735077.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Nov 29, 2020)
criteria provided, single submitter
Method: clinical testing
DiGeorge Syndrome
Allele origin: germline
Invitae
Accession: SCV000751446.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 21, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001777456.1
Submitted: (Aug 10, 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 rs367711718...

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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 05, 2021