NM_000546.5(TP53):c.255T>C (p.Pro85=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Oct 25, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000437314.4

Allele description [Variation Report for NM_000546.5(TP53):c.255T>C (p.Pro85=)]

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

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.5(TP53):c.255T>C (p.Pro85=)
HGVS:
  • NC_000017.11:g.7676114A>G
  • NG_017013.2:g.16437T>C
  • NM_000546.5:c.255T>C
  • NM_001126112.2:c.255T>C
  • NM_001126113.2:c.255T>C
  • NM_001126114.2:c.255T>C
  • NM_001126118.1:c.138T>C
  • NM_001276695.2:c.138T>C
  • NM_001276696.2:c.138T>C
  • NM_001276760.2:c.138T>C
  • NM_001276761.2:c.138T>C
  • NP_000537.3:p.Pro85=
  • NP_001119584.1:p.Pro85=
  • NP_001119585.1:p.Pro85=
  • NP_001119586.1:p.Pro85=
  • NP_001119590.1:p.Pro46=
  • NP_001263624.1:p.Pro46=
  • NP_001263625.1:p.Pro46=
  • NP_001263689.1:p.Pro46=
  • NP_001263690.1:p.Pro46=
  • LRG_321t1:c.255T>C
  • LRG_321t2:c.255T>C
  • LRG_321t3:c.255T>C
  • LRG_321t4:c.255T>C
  • LRG_321t8:c.138T>C
  • LRG_321:g.16437T>C
  • LRG_321:p.Pro85=
  • LRG_321p1:p.Pro85=
  • LRG_321p3:p.Pro85=
  • LRG_321p4:p.Pro85=
  • LRG_321p8:p.Pro46=
  • NC_000017.10:g.7579432A>G
  • NM_000546.4:c.255T>C
  • p.P85P
  • p.Pro85Pro
Links:
dbSNP: rs775515332
NCBI 1000 Genomes Browser:
rs775515332
Molecular consequence:
  • NM_000546.5:c.255T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126112.2:c.255T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126113.2:c.255T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126114.2:c.255T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126118.1:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276695.2:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276696.2:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276760.2:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276761.2:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000531779GeneDxcriteria provided, single submitter
Likely benign
(Nov 9, 2017)
germlineclinical testing

Citation Link,

SCV000602265Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Benign
(Oct 25, 2019)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Betge J, Kerr G, Miersch T, Leible S, Erdmann G, Galata CL, Zhan T, Gaiser T, Post S, Ebert MP, Horisberger K, Boutros M.

PLoS One. 2015;10(5):e0127146. doi: 10.1371/journal.pone.0127146.

PubMed [citation]
PMID:
26010451
PMCID:
PMC4444292

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000531779.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000602265.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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