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NM_000546.6(TP53):c.665C>T (p.Pro222Leu) AND TP53-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003905279.2

Allele description [Variation Report for NM_000546.6(TP53):c.665C>T (p.Pro222Leu)]

NM_000546.6(TP53):c.665C>T (p.Pro222Leu)

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.665C>T (p.Pro222Leu)
Other names:
p.P222L:CCG>CTG
HGVS:
  • NC_000017.11:g.7674866G>A
  • NG_017013.2:g.17685C>T
  • NM_000546.6:c.665C>TMANE SELECT
  • NM_001126112.3:c.665C>T
  • NM_001126113.3:c.665C>T
  • NM_001126114.3:c.665C>T
  • NM_001126115.2:c.269C>T
  • NM_001126116.2:c.269C>T
  • NM_001126117.2:c.269C>T
  • NM_001126118.2:c.548C>T
  • NM_001276695.3:c.548C>T
  • NM_001276696.3:c.548C>T
  • NM_001276697.3:c.188C>T
  • NM_001276698.3:c.188C>T
  • NM_001276699.3:c.188C>T
  • NM_001276760.3:c.548C>T
  • NM_001276761.3:c.548C>T
  • NP_000537.3:p.Pro222Leu
  • NP_000537.3:p.Pro222Leu
  • NP_001119584.1:p.Pro222Leu
  • NP_001119585.1:p.Pro222Leu
  • NP_001119586.1:p.Pro222Leu
  • NP_001119587.1:p.Pro90Leu
  • NP_001119588.1:p.Pro90Leu
  • NP_001119589.1:p.Pro90Leu
  • NP_001119590.1:p.Pro183Leu
  • NP_001263624.1:p.Pro183Leu
  • NP_001263625.1:p.Pro183Leu
  • NP_001263626.1:p.Pro63Leu
  • NP_001263627.1:p.Pro63Leu
  • NP_001263628.1:p.Pro63Leu
  • NP_001263689.1:p.Pro183Leu
  • NP_001263690.1:p.Pro183Leu
  • LRG_321t1:c.665C>T
  • LRG_321:g.17685C>T
  • LRG_321p1:p.Pro222Leu
  • NC_000017.10:g.7578184G>A
  • NM_000546.4:c.665C>T
  • NM_000546.5:c.665C>T
  • P04637:p.Pro222Leu
  • p.P222L
Protein change:
P183L
Links:
UniProtKB: P04637#VAR_045125; dbSNP: rs146340390
NCBI 1000 Genomes Browser:
rs146340390
Molecular consequence:
  • NM_000546.6:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.269C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.269C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.269C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TP53-related disorder
Synonyms:
TP53-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004720053PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Oct 31, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004720053.2

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

Description

The TP53 c.665C>T variant is predicted to result in the amino acid substitution p.Pro222Leu. This variant has been reported as a germline variant in a patient with Li-Fraumeni syndrome (Ruijs et al. 2010. PubMed ID: 20522432) and in two patients with chronic lymphocytic leukemia while being absent from controls (Bilous et al. 2016. PubMed ID: 28230820). However, pathogenicity was not clearly established. This variant has been observed in only 6 out of ~282,000 alleles in a large population database and has been reported in ClinVar with conflicting interpretations ranging from benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 24, 2024