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NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1
First in ClinVar:
Jun 9, 2014
Most recent Submission:
Jun 9, 2014
Accession:
VCV000133282.1
Variation ID:
133282
Description:
12bp deletion
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NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)

Allele ID
137021
Variant type
Deletion
Variant length
12 bp
Cytogenetic location
17p13.1
Genomic location
17: 7675153-7675164 (GRCh38) GRCh38 UCSC
17: 7578471-7578482 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000546.6:c.448_459del MANE Select NP_000537.3:p.Thr150_Pro153del
NM_001126112.3:c.448_459del NP_001119584.1:p.Thr150_Pro153del
NM_001126113.3:c.448_459del NP_001119585.1:p.Thr150_Pro153del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:7675152:GGGCGGGGGTGTGG:GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000194
dbSNP: rs137852790
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000119795.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TP53 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2461 2543

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
not provided
(-)
no assertion provided
Method: not provided
not provided
Affected status: not provided
Allele origin: somatic
Laboratory of Translational Genomics, National Cancer Institute
Accession: SCV000154267.1
First in ClinVar: Jun 09, 2014
Last updated: Jun 09, 2014
Comment:
Pediatric sarcoma specimen

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 rs137852790...

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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 Apr 24, 2022