NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Hepatocellular carcinoma

This record was updated by the submitter. Please see the current version.

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:: RCV000438410.2

Allele description

NM_000546.6(TP53):c.743G>A (p.Arg248Gln)

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.743G>A (p.Arg248Gln)

Other names:

p.R248Q:CGG>CAG

HGVS:

NC_000017.11:g.7674220C>T
NG_017013.2:g.18331G>A
NM_000546.6:c.743G>AMANE SELECT
NM_001126112.3:c.743G>A
NM_001126113.3:c.743G>A
NM_001126114.3:c.743G>A
NM_001126115.2:c.347G>A
NM_001126116.2:c.347G>A
NM_001126117.2:c.347G>A
NM_001126118.2:c.626G>A
NM_001276695.3:c.626G>A
NM_001276696.3:c.626G>A
NM_001276697.3:c.266G>A
NM_001276698.3:c.266G>A
NM_001276699.3:c.266G>A
NM_001276760.3:c.626G>A
NM_001276761.3:c.626G>A
NP_000537.3:p.Arg248Gln
NP_000537.3:p.Arg248Gln
NP_001119584.1:p.Arg248Gln
NP_001119585.1:p.Arg248Gln
NP_001119586.1:p.Arg248Gln
NP_001119587.1:p.Arg116Gln
NP_001119588.1:p.Arg116Gln
NP_001119589.1:p.Arg116Gln
NP_001119590.1:p.Arg209Gln
NP_001263624.1:p.Arg209Gln
NP_001263625.1:p.Arg209Gln
NP_001263626.1:p.Arg89Gln
NP_001263627.1:p.Arg89Gln
NP_001263628.1:p.Arg89Gln
NP_001263689.1:p.Arg209Gln
NP_001263690.1:p.Arg209Gln
LRG_321t1:c.743G>A
LRG_321:g.18331G>A
LRG_321p1:p.Arg248Gln
NC_000017.10:g.7577538C>T
NM_000546.4:c.743G>A
NM_000546.5(TP53):c.743G>A
NM_000546.5:c.743G>A
P04637:p.Arg248Gln
p.R248Q

Protein change:

R116Q; ARG248GLN

Links:

UniProtKB: P04637#VAR_005983; OMIM: 191170.0010; dbSNP: rs11540652

NCBI 1000 Genomes Browser:

rs11540652

Molecular consequence:

NM_000546.6:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hepatocellular carcinoma (HCC)
Synonyms:: Primary carcinoma of liver; Hepatoma; LIVER CELL CARCINOMA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007256; MedGen: C2239176; OMIM: 114550; Human Phenotype Ontology: HP:0001402

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000504704	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 31, 2016)	somatic	literature only	PubMed (3) [See all records that cite these PMIDs] 15004724, 26619011, 25157968 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504704

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 31, 2016)

somatic

literature only

PubMed (3)
[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

Mutant p53 expression enhances drug resistance in a hepatocellular carcinoma cell line.

Chan KT, Lung ML.

Cancer Chemother Pharmacol. 2004 Jun;53(6):519-26. Epub 2004 Mar 4.

PubMed [citation]

PMID:: 15004724

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

See all PubMed Citations (3)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504704.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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: Aug 26, 2023

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