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NM_000546.5(TP53):c.*6T>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: May 19, 2020)
Last evaluated:
May 15, 2017
Accession:
VCV000385946.2
Variation ID:
385946
Description:
single nucleotide variant
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NM_000546.5(TP53):c.*6T>A

Allele ID
375712
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7669603 (GRCh38) GRCh38 UCSC
17: 7572921 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_321t1:c.*6T>A
LRG_321t6:c.*295T>A
LRG_321t3:c.*295T>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:7669602:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA000667
dbSNP: rs369567704
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 2, 2016 RCV000420778.1
Uncertain significance 1 criteria provided, single submitter May 15, 2017 RCV000586669.1
Likely benign 1 criteria provided, single submitter Apr 22, 2016 RCV001177928.1
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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
2197 2260

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 02, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000527392.3
Submitted: (Nov 28, 2017)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(May 15, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697421.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The TP53 c.*6T>A variant involves the alteration of a non-conserved nucleotide in the 3'-UTR. One in silico tool predicts a benign outcome for … (more)
Likely benign
(Apr 22, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001342241.1
Submitted: (May 19, 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 rs369567704...

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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 Jun 14, 2021