NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND Li-fraumeni-like syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1995
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:: RCV000013148.26

Allele description [Variation Report for NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)]

NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)

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.725G>A (p.Cys242Tyr)

HGVS:

NC_000017.11:g.7674238C>T
NG_017013.2:g.18313G>A
NM_000546.6:c.725G>AMANE SELECT
NM_001126112.3:c.725G>A
NM_001126113.3:c.725G>A
NM_001126114.3:c.725G>A
NM_001126115.2:c.329G>A
NM_001126116.2:c.329G>A
NM_001126117.2:c.329G>A
NM_001126118.2:c.608G>A
NM_001276695.3:c.608G>A
NM_001276696.3:c.608G>A
NM_001276697.3:c.248G>A
NM_001276698.3:c.248G>A
NM_001276699.3:c.248G>A
NM_001276760.3:c.608G>A
NM_001276761.3:c.608G>A
NP_000537.3:p.Cys242Tyr
NP_000537.3:p.Cys242Tyr
NP_001119584.1:p.Cys242Tyr
NP_001119585.1:p.Cys242Tyr
NP_001119586.1:p.Cys242Tyr
NP_001119587.1:p.Cys110Tyr
NP_001119588.1:p.Cys110Tyr
NP_001119589.1:p.Cys110Tyr
NP_001119590.1:p.Cys203Tyr
NP_001263624.1:p.Cys203Tyr
NP_001263625.1:p.Cys203Tyr
NP_001263626.1:p.Cys83Tyr
NP_001263627.1:p.Cys83Tyr
NP_001263628.1:p.Cys83Tyr
NP_001263689.1:p.Cys203Tyr
NP_001263690.1:p.Cys203Tyr
LRG_321t1:c.725G>A
LRG_321:g.18313G>A
LRG_321p1:p.Cys242Tyr
NC_000017.10:g.7577556C>T
NM_000546.4:c.725G>A
NM_000546.5:c.725G>A
P04637:p.Cys242Tyr
p.C242Y

Protein change:

C110Y; CYS242TYR

Links:

UniProtKB: P04637#VAR_045224; OMIM: 191170.0008; dbSNP: rs121912655

Molecular consequence:

NM_000546.6:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.329G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.329G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.329G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.608G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.608G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.608G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.608G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.608G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Li-fraumeni-like syndrome
Identifiers:: MONDO: MONDO:0800290; MedGen: C2675080

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033395	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1995)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1679237, 8718514

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033395

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1995)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma.

Metzger AK, Sheffield VC, Duyk G, Daneshvar L, Edwards MS, Cogen PH.

Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7825-9.

PubMed [citation]

PMID:: 1679237
PMCID:: PMC52396

Germline mutations in the TP53 gene.

Eeles RA.

Cancer Surv. 1995;25:101-24. Review.

PubMed [citation]

PMID:: 8718514

Details of each submission

From OMIM, SCV000033395.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with Li-Fraumeni syndrome-1 (151623) presenting as a malignant ependymoma of the posterior fossa, Metzger et al. (1991) identified a germline cys242-to-tyr (C242Y) substitution in the TP53 gene. Tumor tissue from the patient carried the same mutation. Family history revealed that many members had died of various cancers, including osteosarcoma and other brain tumors. The mutation was in exon 7 in an area highly conserved across species and a region involved in several other mutations in neoplasms, including in other families with Li-Fraumeni syndrome-1. Ependymoma had not previously been observed as a feature of Li-Fraumeni syndrome. Eeles (1995) noted that this family had tumors characteristic of Li-Fraumeni-like syndrome, but only among relatives with a third-degree relationship.

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

Last Updated: Apr 12, 2026

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