NM_000546.6(TP53):c.159G>A (p.Trp53Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 21, 2018
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:: RCV000480240.2

Allele description [Variation Report for NM_000546.6(TP53):c.159G>A (p.Trp53Ter)]

NM_000546.6(TP53):c.159G>A (p.Trp53Ter)

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.159G>A (p.Trp53Ter)

HGVS:

NC_000017.11:g.7676210C>T
NG_017013.2:g.16341G>A
NM_000546.6:c.159G>AMANE SELECT
NM_001126112.3:c.159G>A
NM_001126113.3:c.159G>A
NM_001126114.3:c.159G>A
NM_001126118.2:c.42G>A
NM_001276695.3:c.42G>A
NM_001276696.3:c.42G>A
NM_001276760.3:c.42G>A
NM_001276761.3:c.42G>A
NP_000537.3:p.Trp53Ter
NP_000537.3:p.Trp53Ter
NP_001119584.1:p.Trp53Ter
NP_001119585.1:p.Trp53Ter
NP_001119586.1:p.Trp53Ter
NP_001119590.1:p.Trp14Ter
NP_001263624.1:p.Trp14Ter
NP_001263625.1:p.Trp14Ter
NP_001263689.1:p.Trp14Ter
NP_001263690.1:p.Trp14Ter
LRG_321t1:c.159G>A
LRG_321:g.16341G>A
LRG_321p1:p.Trp53Ter
NC_000017.10:g.7579528C>T
NM_000546.4:c.159G>A
NM_000546.5:c.159G>A

Protein change:

W14*

Links:

dbSNP: rs1064794618

NCBI 1000 Genomes Browser:

rs1064794618

Molecular consequence:

NM_000546.6:c.159G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001126112.3:c.159G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001126113.3:c.159G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001126114.3:c.159G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001126118.2:c.42G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001276695.3:c.42G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001276696.3:c.42G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001276760.3:c.42G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001276761.3:c.42G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569586	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 21, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569586

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 21, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000569586.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is denoted TP53 c.159G>A at the cDNA level and p.Trp53Ter (W53X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. TP53 Trp53Ter has been observed in a child with adrenocortical carcinoma (Bougeard 2015). Based on currently available evidence, we consider this variant to be pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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