NM_000546.6(TP53):c.583A>T (p.Ile195Phe) AND Malignant tumor of esophagus

Germline classification:: Pathogenic (1 submission)
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:: RCV001270271.3

Allele description [Variation Report for NM_000546.6(TP53):c.583A>T (p.Ile195Phe)]

NM_000546.6(TP53):c.583A>T (p.Ile195Phe)

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.583A>T (p.Ile195Phe)

HGVS:

NC_000017.11:g.7674948T>A
NG_017013.2:g.17603A>T
NM_000546.6:c.583A>TMANE SELECT
NM_001126112.3:c.583A>T
NM_001126113.3:c.583A>T
NM_001126114.3:c.583A>T
NM_001126115.2:c.187A>T
NM_001126116.2:c.187A>T
NM_001126117.2:c.187A>T
NM_001126118.2:c.466A>T
NM_001276695.3:c.466A>T
NM_001276696.3:c.466A>T
NM_001276697.3:c.106A>T
NM_001276698.3:c.106A>T
NM_001276699.3:c.106A>T
NM_001276760.3:c.466A>T
NM_001276761.3:c.466A>T
NP_000537.3:p.Ile195Phe
NP_001119584.1:p.Ile195Phe
NP_001119585.1:p.Ile195Phe
NP_001119586.1:p.Ile195Phe
NP_001119587.1:p.Ile63Phe
NP_001119588.1:p.Ile63Phe
NP_001119589.1:p.Ile63Phe
NP_001119590.1:p.Ile156Phe
NP_001263624.1:p.Ile156Phe
NP_001263625.1:p.Ile156Phe
NP_001263626.1:p.Ile36Phe
NP_001263627.1:p.Ile36Phe
NP_001263628.1:p.Ile36Phe
NP_001263689.1:p.Ile156Phe
NP_001263690.1:p.Ile156Phe
LRG_321:g.17603A>T
NC_000017.10:g.7578266T>A
NM_000546.4:c.583A>T

Protein change:

I156F

Links:

dbSNP: rs942158624

NCBI 1000 Genomes Browser:

rs942158624

Molecular consequence:

NM_000546.6:c.583A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.583A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.583A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.583A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.187A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.187A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.187A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.466A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.466A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.466A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.106A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.106A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.106A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.466A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.466A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Malignant tumor of esophagus
Synonyms:: Esophageal cancer; Esophagus cancer; Esophageal cancer, somatic
Identifiers:: MONDO: MONDO:0007576; MedGen: C0546837; Orphanet: 99977; OMIM: 133239

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LOC126805641 [Homo sapiens]
LOC126805641 [Homo sapiens]
Gene ID:126805641

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450487	Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	somatic	case-control	PubMed (2) [See all records that cite these PMIDs] 25741868, 30816478

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450487

Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

somatic

case-control

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	somatic	yes	not provided	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Manoharan V, Karunanayake EH, Tennekoon KH, De Silva S, De Silva K, Angunawela P, Lunec J.

Mol Med Rep. 2019 Apr;19(4):2781-2791. doi: 10.3892/mmr.2019.9948. Epub 2019 Feb 11.

PubMed [citation]

PMID:: 30816478
PMCID:: PMC6423636

Details of each submission

From Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, SCV001450487.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (2)

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

Last Updated: Sep 29, 2024

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