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NM_000546.5(TP53):c.448_459del (p.Thr150_Pro153del)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Jan 14, 2011)
Accession:
VCV000133282.1
Variation ID:
133282
Description:
12bp deletion
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NM_000546.5(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
NC_000017.10:g.7578473_7578484del
NC_000017.11:g.7675155_7675166del
NM_000546.5:c.448_459del NP_000537.3:p.Thr150_Pro153del
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000194
dbSNP: rs137852790
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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
1611 1656

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: somatic
Laboratory of Translational Genomics, National Cancer Institute
Accession: SCV000154267.1
Submitted: (Jan 14, 2011)
Comment:
Pediatric sarcoma specimen
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019