NM_000546.6(TP53):c.373A>C (p.Thr125Pro) 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:: RCV000433906.2

Allele description [Variation Report for NM_000546.6(TP53):c.373A>C (p.Thr125Pro)]

NM_000546.6(TP53):c.373A>C (p.Thr125Pro)

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.373A>C (p.Thr125Pro)

HGVS:

NC_000017.11:g.7675996T>G
NG_017013.2:g.16555A>C
NM_000546.4:c.373A>C
NM_000546.6:c.373A>CMANE SELECT
NM_001126112.3:c.373A>C
NM_001126113.3:c.373A>C
NM_001126114.3:c.373A>C
NM_001126118.2:c.256A>C
NM_001276695.3:c.256A>C
NM_001276696.3:c.256A>C
NM_001276760.3:c.256A>C
NM_001276761.3:c.256A>C
NP_000537.3:p.Thr125Pro
NP_000537.3:p.Thr125Pro
NP_001119584.1:p.Thr125Pro
NP_001119585.1:p.Thr125Pro
NP_001119586.1:p.Thr125Pro
NP_001119590.1:p.Thr86Pro
NP_001263624.1:p.Thr86Pro
NP_001263625.1:p.Thr86Pro
NP_001263689.1:p.Thr86Pro
NP_001263690.1:p.Thr86Pro
LRG_321t1:c.373A>C
LRG_321:g.16555A>C
LRG_321p1:p.Thr125Pro
NC_000017.10:g.7579314T>G
NM_000546.5:c.373A>C
NM_000546.6:c.373A>C

Protein change:

T125P

Links:

dbSNP: rs1057520003

NCBI 1000 Genomes Browser:

rs1057520003

Molecular consequence:

NM_000546.6:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.256A>C - 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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Tub TUB bipartite transcription factor [Mus musculus]
Tub TUB bipartite transcription factor [Mus musculus]
Gene ID:22141

Gene
22141[uid] AND (alive[prop]) (1)
Gene
Tssk2 testis-specific serine kinase 2 [Mus musculus]
Tssk2 testis-specific serine kinase 2 [Mus musculus]
Gene ID:22115

Gene
22115[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000509807	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 31, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000509807

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 31, 2016)

somatic

literature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

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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

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]

PMID:: 26619011
PMCID:: PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000509807.1

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

#	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: Nov 10, 2024

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