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NM_000546.5(TP53):c.255T>C (p.Pro85=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000184097.9
Variation ID:
184097
Description:
single nucleotide variant
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NM_000546.5(TP53):c.255T>C (p.Pro85=)

Allele ID
185398
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7676114 (GRCh38) GRCh38 UCSC
17: 7579432 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7579432A>G
NC_000017.11:g.7676114A>G
NM_000546.5:c.255T>C NP_000537.3:p.Pro85= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:7676113:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA000087
dbSNP: rs775515332
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 May 31, 2016 RCV000163221.2
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 25, 2019 RCV000437314.4
Likely benign 1 criteria provided, single submitter Dec 2, 2020 RCV000200422.8
Likely benign 1 criteria provided, single submitter Mar 8, 2016 RCV000410322.1
Likely benign 1 criteria provided, single submitter Nov 1, 2020 RCV001311110.1
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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 31, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000686730.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Nov 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000531779.4
Submitted: (Mar 26, 2018)
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)
Likely benign
(Sep 30, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000213745.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Likely benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Li-Fraumeni syndrome
Allele origin: germline
Invitae
Accession: SCV000253309.8
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 08, 2016)
criteria provided, single submitter
Method: clinical testing
Li-Fraumeni syndrome 1
Allele origin: unknown
Counsyl
Accession: SCV000488359.1
Submitted: (Nov 23, 2016)
Evidence details
Benign
(Oct 25, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000602265.2
Submitted: (Dec 31, 2020)
Evidence details
Publications
PubMed (1)
Likely benign
(Nov 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001501157.2
Submitted: (Jul 04, 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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Title Author Journal Year Link
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples. Betge J PloS one 2015 PMID: 26010451

Text-mined citations for rs775515332...

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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