NM_000546.6(TP53):c.637C>G (p.Arg213Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2020
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:: RCV002356518.3

Allele description [Variation Report for NM_000546.6(TP53):c.637C>G (p.Arg213Gly)]

NM_000546.6(TP53):c.637C>G (p.Arg213Gly)

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.637C>G (p.Arg213Gly)

HGVS:

NC_000017.11:g.7674894G>C
NG_017013.2:g.17657C>G
NM_000546.6:c.637C>GMANE SELECT
NM_001126112.3:c.637C>G
NM_001126113.3:c.637C>G
NM_001126114.3:c.637C>G
NM_001126115.2:c.241C>G
NM_001126116.2:c.241C>G
NM_001126117.2:c.241C>G
NM_001126118.2:c.520C>G
NM_001276695.3:c.520C>G
NM_001276696.3:c.520C>G
NM_001276697.3:c.160C>G
NM_001276698.3:c.160C>G
NM_001276699.3:c.160C>G
NM_001276760.3:c.520C>G
NM_001276761.3:c.520C>G
NP_000537.3:p.Arg213Gly
NP_001119584.1:p.Arg213Gly
NP_001119585.1:p.Arg213Gly
NP_001119586.1:p.Arg213Gly
NP_001119587.1:p.Arg81Gly
NP_001119588.1:p.Arg81Gly
NP_001119589.1:p.Arg81Gly
NP_001119590.1:p.Arg174Gly
NP_001263624.1:p.Arg174Gly
NP_001263625.1:p.Arg174Gly
NP_001263626.1:p.Arg54Gly
NP_001263627.1:p.Arg54Gly
NP_001263628.1:p.Arg54Gly
NP_001263689.1:p.Arg174Gly
NP_001263690.1:p.Arg174Gly
LRG_321:g.17657C>G
NC_000017.10:g.7578212G>C
NM_000546.4:c.637C>G

Protein change:

R174G

Links:

dbSNP: rs397516436

NCBI 1000 Genomes Browser:

rs397516436

Molecular consequence:

NM_000546.6:c.637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.241C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.241C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.241C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.520C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.520C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.520C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.160C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.160C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.160C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.520C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.520C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Anas platyrhynchos breed:JinDing duck
Anas platyrhynchos breed:JinDing duck
Reduced-representation libraries sequencing to genomic DNA extracted from eggshell of duck eggs

BioProject

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002655403	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Aug 18, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002655403

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Aug 18, 2020)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002655403.2

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

Description

The p.R213G variant (also known as c.637C>G), located in coding exon 5 of the TP53 gene, results from a C to G substitution at nucleotide position 637. The arginine at codon 213 is replaced by glycine, an amino acid with dissimilar properties. This variant is in the DNA binding domain of the TP53 protein and is reported to have loss of transactivation in yeast based assays (IARC TP53 database: Kato S et al. Proc. Natl. Acad. Sci. USA 2003 Jul;100:8424-9). Additional studies conducted in human cell lines indicate this alteration is deficient at growth suppression (Kotler E et al. Mol. Cell. 2018 Jul;71:178-190.e8; Giacomelli AO et al. Nat. Genet. 2018 Oct;50:1381-1387). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine