NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Acute myeloid leukemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 31, 2016
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:: RCV000440815.1

Allele description

NM_000546.6(TP53):c.818G>A (p.Arg273His)

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.818G>A (p.Arg273His)

Other names:

p.R273H:CGT>CAT

HGVS:

NC_000017.11:g.7673802C>T
NG_017013.2:g.18749G>A
NM_000546.6:c.818G>AMANE SELECT
NM_001126112.3:c.818G>A
NM_001126113.3:c.818G>A
NM_001126114.3:c.818G>A
NM_001126115.2:c.422G>A
NM_001126116.2:c.422G>A
NM_001126117.2:c.422G>A
NM_001126118.2:c.701G>A
NM_001276695.3:c.701G>A
NM_001276696.3:c.701G>A
NM_001276697.3:c.341G>A
NM_001276698.3:c.341G>A
NM_001276699.3:c.341G>A
NM_001276760.3:c.701G>A
NM_001276761.3:c.701G>A
NP_000537.3:p.Arg273His
NP_000537.3:p.Arg273His
NP_001119584.1:p.Arg273His
NP_001119585.1:p.Arg273His
NP_001119586.1:p.Arg273His
NP_001119587.1:p.Arg141His
NP_001119587.1:p.Arg141His
NP_001119588.1:p.Arg141His
NP_001119589.1:p.Arg141His
NP_001119590.1:p.Arg234His
NP_001263624.1:p.Arg234His
NP_001263625.1:p.Arg234His
NP_001263626.1:p.Arg114His
NP_001263627.1:p.Arg114His
NP_001263628.1:p.Arg114His
NP_001263689.1:p.Arg234His
NP_001263690.1:p.Arg234His
LRG_321t1:c.818G>A
LRG_321t5:c.422G>A
LRG_321:g.18749G>A
LRG_321p1:p.Arg273His
LRG_321p5:p.Arg141His
NC_000017.10:g.7577120C>T
NM_000546.4:c.818G>A
NM_000546.5(TP53):c.818G>A
NM_000546.5:c.818G>A
NM_001126115.1:c.422G>A
P04637:p.Arg273His
p.R273H

Protein change:

R114H; ARG273HIS

Links:

UniProtKB: P04637#VAR_005995; OMIM: 191170.0020; dbSNP: rs28934576

Molecular consequence:

NM_000546.6:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Acute myeloid leukemia (AML)
Synonyms:: Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000504664	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 31, 2016)	somatic	literature only	PubMed (4) [See all records that cite these PMIDs] 24381225, 24641375, 24487413, 26619011 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504664

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 31, 2016)

somatic

literature only

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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	literature only

Citations

PubMed

Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice.

Stoddart A, Fernald AA, Wang J, Davis EM, Karrison T, Anastasi J, Le Beau MM.

Blood. 2014 Feb 13;123(7):1069-78. doi: 10.1182/blood-2013-07-517953. Epub 2013 Dec 31.

PubMed [citation]

PMID:: 24381225
PMCID:: PMC3924928

Prognostic significance of TP53 mutations and single nucleotide polymorphisms in acute myeloid leukemia: a case series and literature review.

Zeichner SB, Alghamdi S, Elhammady G, Poppiti RJ.

Asian Pac J Cancer Prev. 2014;15(4):1603-9.

PubMed [citation]

PMID:: 24641375

See all PubMed Citations (4)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504664.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

#	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: Jun 18, 2022

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