NM_000546.6(TP53):c.698A>G (p.His233Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 5, 2016
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:: RCV000235730.2

Allele description [Variation Report for NM_000546.6(TP53):c.698A>G (p.His233Arg)]

NM_000546.6(TP53):c.698A>G (p.His233Arg)

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.698A>G (p.His233Arg)

HGVS:

NC_000017.11:g.7674265T>C
NG_017013.2:g.18286A>G
NM_000546.6:c.698A>GMANE SELECT
NM_001126112.3:c.698A>G
NM_001126113.3:c.698A>G
NM_001126114.3:c.698A>G
NM_001126115.2:c.302A>G
NM_001126116.2:c.302A>G
NM_001126117.2:c.302A>G
NM_001126118.2:c.581A>G
NM_001276695.3:c.581A>G
NM_001276696.3:c.581A>G
NM_001276697.3:c.221A>G
NM_001276698.3:c.221A>G
NM_001276699.3:c.221A>G
NM_001276760.3:c.581A>G
NM_001276761.3:c.581A>G
NP_000537.3:p.His233Arg
NP_001119584.1:p.His233Arg
NP_001119585.1:p.His233Arg
NP_001119586.1:p.His233Arg
NP_001119587.1:p.His101Arg
NP_001119588.1:p.His101Arg
NP_001119589.1:p.His101Arg
NP_001119590.1:p.His194Arg
NP_001263624.1:p.His194Arg
NP_001263625.1:p.His194Arg
NP_001263626.1:p.His74Arg
NP_001263627.1:p.His74Arg
NP_001263628.1:p.His74Arg
NP_001263689.1:p.His194Arg
NP_001263690.1:p.His194Arg
LRG_321:g.18286A>G
NC_000017.10:g.7577583T>C
NM_000546.4:c.698A>G
P04637:p.His233Arg

Protein change:

H101R

Links:

UniProtKB: P04637#VAR_047181; dbSNP: rs879254233

NCBI 1000 Genomes Browser:

rs879254233

Molecular consequence:

NM_000546.6:c.698A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.698A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.698A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.698A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.581A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.581A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.581A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.221A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.221A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.221A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.581A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.581A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000293920	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 5, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293920

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 5, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000293920.10

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

Description

This variant is denoted TP53 c.698A>G at the cDNA level, p.His233Arg (H233R) at the protein level, and results in the change of a Histidine to an Arginine (CAC>CGC). Functional assays suggest that this variant may have a benign effect on protein function (Baroni 2004, Pekova 2011). TP53 His233Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Histidine and Arginine share similar properties, this is considered a conservative amino acid substitution. TP53 His233Arg occurs at a position that is conserved in mammals and is located in the DNA binding domain and a region of interaction with multiple proteins (Bode 2004, UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether TP53 His233Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: May 16, 2025

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