NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 13, 2023
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:: RCV003314552.3

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004014206	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004014206

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jul 13, 2023)

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, SCV004014206.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with personal histories consistent with Li-Fraumeni syndrome in published literature and tested at GeneDx (Metzger et al., 1991; McIntyre et al., 1994; Murakawa et al., 1998; Blanco et al., 2010; Mirabello et al., 2015); Published functional studies demonstrate a damaging effect: non-functional transactivation, impaired growth suppression activity, dominant-negative effect (Campomenosi et al., 2001; Kato et al., 2003; Monti et al., 2011; Kotler et al., 2018; Giacomelli et al., 2018); This variant is associated with the following publications: (PMID: 23531339, 20557307, 25529192, 22941189, 29979965, 17606709, 21349819, 9839505, 12826609, 1679237, 21348641, 19930417, 23200980, 23973117, 27267833, 25232094, 25695693, 22983585, 12112531, 27739435, 17962810, 21343334, 25847421, 22047961, 27121307, 15388804, 11429705, 21197471, 16622896, 11596036, 12957544, 25593300, 8164043, 20407015, 25896519, 9364015, 10089074, 30720243, 30840781, 31206626, 30224644, 15510160, 31105275)

#	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: Apr 12, 2026

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