NM_000546.6(TP53):c.981T>G (p.Tyr327Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 9, 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:: RCV000235861.1

Allele description [Variation Report for NM_000546.6(TP53):c.981T>G (p.Tyr327Ter)]

NM_000546.6(TP53):c.981T>G (p.Tyr327Ter)

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.981T>G (p.Tyr327Ter)

HGVS:

NC_000017.11:g.7673547A>C
NG_017013.2:g.19004T>G
NM_000546.6:c.981T>GMANE SELECT
NM_001126112.3:c.981T>G
NM_001126113.3:c.981T>G
NM_001126114.3:c.981T>G
NM_001126115.2:c.585T>G
NM_001126116.2:c.585T>G
NM_001126117.2:c.585T>G
NM_001126118.2:c.864T>G
NM_001276695.3:c.864T>G
NM_001276696.3:c.864T>G
NM_001276697.3:c.504T>G
NM_001276698.3:c.504T>G
NM_001276699.3:c.504T>G
NM_001276760.3:c.864T>G
NM_001276761.3:c.864T>G
NP_000537.3:p.Tyr327Ter
NP_001119584.1:p.Tyr327Ter
NP_001119585.1:p.Tyr327Ter
NP_001119586.1:p.Tyr327Ter
NP_001119587.1:p.Tyr195Ter
NP_001119588.1:p.Tyr195Ter
NP_001119589.1:p.Tyr195Ter
NP_001119590.1:p.Tyr288Ter
NP_001263624.1:p.Tyr288Ter
NP_001263625.1:p.Tyr288Ter
NP_001263626.1:p.Tyr168Ter
NP_001263627.1:p.Tyr168Ter
NP_001263628.1:p.Tyr168Ter
NP_001263689.1:p.Tyr288Ter
NP_001263690.1:p.Tyr288Ter
LRG_321:g.19004T>G
NC_000017.10:g.7576865A>C
NM_000546.4:c.981T>G

Protein change:

Y168*

Links:

dbSNP: rs879254077

NCBI 1000 Genomes Browser:

rs879254077

Molecular consequence:

NM_000546.6:c.981T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001126112.3:c.981T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001126113.3:c.981T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001126114.3:c.981T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001126115.2:c.585T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001126116.2:c.585T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001126117.2:c.585T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001126118.2:c.864T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001276695.3:c.864T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001276696.3:c.864T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001276697.3:c.504T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001276698.3:c.504T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001276699.3:c.504T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001276760.3:c.864T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001276761.3:c.864T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000293379	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Aug 9, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293379

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Aug 9, 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, SCV000293379.9

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

Description

This pathogenic variant is denoted TP53 c.981T>G at the cDNA level and p.Tyr327Ter (Y327X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has not, to our knowledge, been published in the literature as either a pathogenic germline variant or a benign polymorphism. However, it has been reported as a somatic variant in multiple tumors, including but not limited to prostate, bile duct, head and neck, and ovarian carcinomas (Watanabe 1997, Leitao 2004, Agrawal 2011, Ong 2012). Based on current evidence, we consider this variant to be likely 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: Nov 5, 2022

ClinVar

Relating variation to medicine