NM_000546.6(TP53):c.215C>G (p.Pro72Arg) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 18, 2014
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000132165.4

Allele description

NM_000546.6(TP53):c.215C>G (p.Pro72Arg)

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.215C>G (p.Pro72Arg)

HGVS:

NC_000017.11:g.7676154G>C
NG_017013.2:g.16397C>G
NM_000546.6:c.215C>GMANE SELECT
NM_001126112.3:c.215C>G
NM_001126113.3:c.215C>G
NM_001126114.3:c.215C>G
NM_001126118.2:c.98C>G
NM_001276695.3:c.98C>G
NM_001276696.3:c.98C>G
NM_001276760.3:c.98C>G
NM_001276761.3:c.98C>G
NP_000537.3:p.Pro72Arg
NP_000537.3:p.Pro72Arg
NP_001119584.1:p.Pro72Arg
NP_001119585.1:p.Pro72Arg
NP_001119586.1:p.Pro72Arg
NP_001119586.1:p.Pro72Arg
NP_001119590.1:p.Pro33Arg
NP_001263624.1:p.Pro33Arg
NP_001263625.1:p.Pro33Arg
NP_001263689.1:p.Pro33Arg
NP_001263690.1:p.Pro33Arg
LRG_321t1:c.215C>G
LRG_321t3:c.215C>G
LRG_321:g.16397C>G
LRG_321p1:p.Pro72Arg
LRG_321p3:p.Pro72Arg
NC_000017.10:g.7579472G>C
NM_000546.4:c.215C>G
NM_000546.5:c.215C>G
NM_001126114.2:c.215C>G
P04637:p.Pro72Arg
p.P72R

Protein change:

P33R; PRO72ARG

Links:

PharmGKB Clinical Annotation: 655386635; UniProtKB: P04637#VAR_005856; OMIM: 191170.0005; dbSNP: rs1042522

NCBI 1000 Genomes Browser:

rs1042522

Molecular consequence:

NM_000546.6:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.98C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000187242	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Benign (Nov 18, 2014)	germline	clinical testing	Citation Link,
SCV000292072	Color Health, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 5, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000187242

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Benign
(Nov 18, 2014)

germline

clinical testing

Citation Link,

SCV000292072

Color Health, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Nov 5, 2014)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Ambry Genetics, SCV000187242.7

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

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)

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

From Color Health, Inc, SCV000292072.1

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

#	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: Jun 18, 2022

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