U.S. flag

An official website of the United States government

NM_000546.6(TP53):c.266C>T (p.Pro89Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 25, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000161019.10

Allele description [Variation Report for NM_000546.6(TP53):c.266C>T (p.Pro89Leu)]

NM_000546.6(TP53):c.266C>T (p.Pro89Leu)

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.266C>T (p.Pro89Leu)
Other names:
p.P89L:CCC>CTC
HGVS:
  • NC_000017.11:g.7676103G>A
  • NG_017013.2:g.16448C>T
  • NM_000546.6:c.266C>TMANE SELECT
  • NM_001126112.3:c.266C>T
  • NM_001126113.3:c.266C>T
  • NM_001126114.3:c.266C>T
  • NM_001126118.2:c.149C>T
  • NM_001276695.3:c.149C>T
  • NM_001276696.3:c.149C>T
  • NM_001276760.3:c.149C>T
  • NM_001276761.3:c.149C>T
  • NM_001407262.1:c.266C>T
  • NM_001407263.1:c.149C>T
  • NM_001407264.1:c.266C>T
  • NM_001407265.1:c.149C>T
  • NM_001407266.1:c.266C>T
  • NM_001407267.1:c.149C>T
  • NM_001407268.1:c.266C>T
  • NM_001407269.1:c.149C>T
  • NM_001407270.1:c.266C>T
  • NM_001407271.1:c.149C>T
  • NP_000537.3:p.Pro89Leu
  • NP_000537.3:p.Pro89Leu
  • NP_001119584.1:p.Pro89Leu
  • NP_001119584.1:p.Pro89Leu
  • NP_001119585.1:p.Pro89Leu
  • NP_001119585.1:p.Pro89Leu
  • NP_001119586.1:p.Pro89Leu
  • NP_001119586.1:p.Pro89Leu
  • NP_001119590.1:p.Pro50Leu
  • NP_001119590.1:p.Pro50Leu
  • NP_001263624.1:p.Pro50Leu
  • NP_001263625.1:p.Pro50Leu
  • NP_001263689.1:p.Pro50Leu
  • NP_001263690.1:p.Pro50Leu
  • NP_001394191.1:p.Pro89Leu
  • NP_001394192.1:p.Pro50Leu
  • NP_001394193.1:p.Pro89Leu
  • NP_001394194.1:p.Pro50Leu
  • NP_001394195.1:p.Pro89Leu
  • NP_001394196.1:p.Pro50Leu
  • NP_001394197.1:p.Pro89Leu
  • NP_001394198.1:p.Pro50Leu
  • NP_001394199.1:p.Pro89Leu
  • NP_001394200.1:p.Pro50Leu
  • LRG_321t1:c.266C>T
  • LRG_321t2:c.266C>T
  • LRG_321t3:c.266C>T
  • LRG_321t4:c.266C>T
  • LRG_321t5:c.-888C>T
  • LRG_321t8:c.149C>T
  • LRG_321:g.16448C>T
  • LRG_321:p.Pro89Leu
  • LRG_321p1:p.Pro89Leu
  • LRG_321p3:p.Pro89Leu
  • LRG_321p4:p.Pro89Leu
  • LRG_321p8:p.Pro50Leu
  • NC_000017.10:g.7579421G>A
  • NM_000546.4:c.266C>T
  • NM_000546.5:c.266C>T
  • NM_001126112.2:c.266C>T
  • NM_001126113.2:c.266C>T
  • NM_001126114.2:c.266C>T
  • NM_001126115.1:c.-888C>T
  • NM_001126118.1:c.149C>T
  • NR_176326.1:n.408C>T
  • P04637:p.Pro89Leu
Protein change:
P50L
Links:
UniProtKB: P04637#VAR_044632; dbSNP: rs730881994
NCBI 1000 Genomes Browser:
rs730881994
Molecular consequence:
  • NM_000546.6:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407262.1:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407263.1:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407264.1:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407265.1:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407266.1:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407267.1:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407268.1:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407269.1:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407270.1:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407271.1:c.149C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176326.1:n.408C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211736GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 25, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000211736.10

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

Description

This variant is denoted TP53 c.266C>T at the cDNA level, p.Pro89Leu (P89L) at the protein level, and results in the change of a Proline to a Leucine (CCC>CTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. TP53 Pro89Leu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Proline and Leucine differ in some properties, this is considered a semi-conservative amino acid substitution. TP53 Pro89Leu occurs at a position that is variable across species and is located in region of interaction with WWOX (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether TP53 Pro89Leu is a pathogenic variant or a benign variant

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

Last Updated: Nov 10, 2024