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NM_000546.5(TP53):c.920-5C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 26, 2020
Accession:
VCV000185487.14
Variation ID:
185487
Description:
single nucleotide variant
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NM_000546.5(TP53):c.920-5C>T

Allele ID
185341
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7673613 (GRCh38) GRCh38 UCSC
17: 7576931 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7576931G>A
NC_000017.11:g.7673613G>A
NM_001126112.2:c.920-5C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:7673612:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00005
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00007
Links
dbSNP: rs34361146
ClinGen: CA000502
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 28, 2019 RCV000164926.4
Likely benign 1 criteria provided, single submitter Oct 26, 2020 RCV001087552.2
Benign 1 criteria provided, single submitter Dec 20, 2019 RCV001283870.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 1, 2018 RCV000587880.4
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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
(Mar 07, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697456.1
Submitted: (Jan 25, 2018)
Evidence details
Likely benign
(Feb 28, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215614.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Insufficient or conflicting evidence
Likely benign
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
Li-Fraumeni syndrome
Allele origin: germline
Invitae
Accession: SCV000557372.6
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Apr 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001151191.6
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Aug 08, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000902814.1
Submitted: (Nov 06, 2018)
Evidence details
Benign
(Dec 20, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469328.1
Submitted: (Dec 31, 2020)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Applications of computational algorithm tools to identify functional SNPs. George Priya Doss C Functional & integrative genomics 2008 PMID: 18563462

Text-mined citations for rs34361146...

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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 Jul 10, 2021