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NM_000546.6(TP53):c.245C>T (p.Pro82Leu) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 30, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000213048.14

Allele description [Variation Report for NM_000546.6(TP53):c.245C>T (p.Pro82Leu)]

NM_000546.6(TP53):c.245C>T (p.Pro82Leu)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.245C>T (p.Pro82Leu)
Other names:
p.P82L:CCG>CTG
HGVS:
  • NC_000017.11:g.7676124G>A
  • NG_017013.2:g.16427C>T
  • NM_000546.6:c.245C>TMANE SELECT
  • NM_001126112.3:c.245C>T
  • NM_001126113.3:c.245C>T
  • NM_001126114.3:c.245C>T
  • NM_001126118.2:c.128C>T
  • NM_001276695.3:c.128C>T
  • NM_001276696.3:c.128C>T
  • NM_001276760.3:c.128C>T
  • NM_001276761.3:c.128C>T
  • NM_001407262.1:c.245C>T
  • NM_001407263.1:c.128C>T
  • NM_001407264.1:c.245C>T
  • NM_001407265.1:c.128C>T
  • NM_001407266.1:c.245C>T
  • NM_001407267.1:c.128C>T
  • NM_001407268.1:c.245C>T
  • NM_001407269.1:c.128C>T
  • NM_001407270.1:c.245C>T
  • NM_001407271.1:c.128C>T
  • NP_000537.3:p.Pro82Leu
  • NP_000537.3:p.Pro82Leu
  • NP_001119584.1:p.Pro82Leu
  • NP_001119584.1:p.Pro82Leu
  • NP_001119585.1:p.Pro82Leu
  • NP_001119585.1:p.Pro82Leu
  • NP_001119586.1:p.Pro82Leu
  • NP_001119586.1:p.Pro82Leu
  • NP_001119590.1:p.Pro43Leu
  • NP_001119590.1:p.Pro43Leu
  • NP_001263624.1:p.Pro43Leu
  • NP_001263625.1:p.Pro43Leu
  • NP_001263689.1:p.Pro43Leu
  • NP_001263690.1:p.Pro43Leu
  • NP_001394191.1:p.Pro82Leu
  • NP_001394192.1:p.Pro43Leu
  • NP_001394193.1:p.Pro82Leu
  • NP_001394194.1:p.Pro43Leu
  • NP_001394195.1:p.Pro82Leu
  • NP_001394196.1:p.Pro43Leu
  • NP_001394197.1:p.Pro82Leu
  • NP_001394198.1:p.Pro43Leu
  • NP_001394199.1:p.Pro82Leu
  • NP_001394200.1:p.Pro43Leu
  • LRG_321t1:c.245C>T
  • LRG_321t2:c.245C>T
  • LRG_321t3:c.245C>T
  • LRG_321t4:c.245C>T
  • LRG_321t7:c.-909C>T
  • LRG_321t8:c.128C>T
  • LRG_321:g.16427C>T
  • LRG_321:p.Pro82Leu
  • LRG_321p1:p.Pro82Leu
  • LRG_321p3:p.Pro82Leu
  • LRG_321p4:p.Pro82Leu
  • LRG_321p8:p.Pro43Leu
  • NC_000017.10:g.7579442G>A
  • NM_000546.4:c.245C>T
  • NM_000546.5(TP53):c.245C>T
  • NM_000546.5:c.245C>T
  • NM_001126112.2:c.245C>T
  • NM_001126113.2:c.245C>T
  • NM_001126114.2:c.245C>T
  • NM_001126117.1:c.-909C>T
  • NM_001126118.1:c.128C>T
  • NR_176326.1:n.387C>T
  • P04637:p.Pro82Leu
  • p.P82L
Protein change:
P43L
Links:
UniProtKB: P04637#VAR_044621; dbSNP: rs534447939
NCBI 1000 Genomes Browser:
rs534447939
Molecular consequence:
  • NM_000546.6:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407262.1:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407263.1:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407264.1:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407265.1:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407266.1:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407267.1:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407268.1:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407269.1:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407270.1:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407271.1:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176326.1:n.387C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211777GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Sep 24, 2018) 		germlineclinical testing

Citation Link,

SCV004221349Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Jan 30, 2023) 		unknownclinical testing

PubMed (14)
[See all records that cite these PMIDs]

Help

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

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

Monti P, Ciribilli Y, Jordan J, Menichini P, Umbach DM, Resnick MA, Luzzatto L, Inga A, Fronza G.

Clin Cancer Res. 2007 Jul 1;13(13):3789-95.

PubMed [citation]
PMID:
17606709
PMCID:
PMC2128783

Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

Malcikova J, Tichy B, Damborsky J, Kabathova J, Trbusek M, Mayer J, Pospisilova S.

Biol Chem. 2010 Feb-Mar;391(2-3):197-205. doi: 10.1515/bc.2010.027.

PubMed [citation]
PMID:
20128691
See all PubMed Citations (14)

Details of each submission

From GeneDx, SCV000211777.15

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

Description

This variant is associated with the following publications: (PMID: 21343334, 11923604, 17606709, 11948487, 12447671, 21680795, 28202063, 20128691, 21390130, 9114050, 27146902, 27892470, 15964795, 8710380, 16007150, 28861920, 30840781, 33300245)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004221349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (14)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024