NM_000546.6(TP53):c.404G>T (p.Cys135Phe) AND Adrenal cortex carcinoma

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000425788.4

Allele description [Variation Report for NM_000546.6(TP53):c.404G>T (p.Cys135Phe)]

NM_000546.6(TP53):c.404G>T (p.Cys135Phe)

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.404G>T (p.Cys135Phe)

HGVS:

NC_000017.11:g.7675208C>A
NG_017013.2:g.17343G>T
NM_000546.6:c.404G>TMANE SELECT
NM_001126112.3:c.404G>T
NM_001126113.3:c.404G>T
NM_001126114.3:c.404G>T
NM_001126115.2:c.8G>T
NM_001126116.2:c.8G>T
NM_001126117.2:c.8G>T
NM_001126118.2:c.287G>T
NM_001276695.3:c.287G>T
NM_001276696.3:c.287G>T
NM_001276697.3:c.-74G>T
NM_001276698.3:c.-74G>T
NM_001276699.3:c.-74G>T
NM_001276760.3:c.287G>T
NM_001276761.3:c.287G>T
NP_000537.3:p.Cys135Phe
NP_000537.3:p.Cys135Phe
NP_001119584.1:p.Cys135Phe
NP_001119585.1:p.Cys135Phe
NP_001119586.1:p.Cys135Phe
NP_001119587.1:p.Cys3Phe
NP_001119588.1:p.Cys3Phe
NP_001119589.1:p.Cys3Phe
NP_001119590.1:p.Cys96Phe
NP_001263624.1:p.Cys96Phe
NP_001263625.1:p.Cys96Phe
NP_001263689.1:p.Cys96Phe
NP_001263690.1:p.Cys96Phe
LRG_321t1:c.404G>T
LRG_321:g.17343G>T
LRG_321p1:p.Cys135Phe
NC_000017.10:g.7578526C>A
NM_000546.4:c.404G>T
NM_000546.5:c.404G>T

Protein change:

C135F

Links:

dbSNP: rs587781991

Molecular consequence:

NM_001276697.3:c.-74G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276698.3:c.-74G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276699.3:c.-74G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.404G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.404G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.404G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.404G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.8G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.8G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.8G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Adrenal cortex carcinoma
Synonyms:: Adrenocortical carcinoma
Identifiers:: MONDO: MONDO:0006639; MeSH: D018268; MedGen: C0206686; Human Phenotype Ontology: HP:0006744

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004046830	Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University	no assertion criteria provided	Likely pathogenic	somatic	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004046830

Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University

no assertion criteria provided

Likely pathogenic

somatic

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University, SCV004046830.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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