NM_000546.5(TP53):c.215C>G (p.Pro72Arg) AND not specified

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

Germline classification:: Benign (2 submissions)
Last evaluated:: Dec 3, 2014
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:: RCV000079202.5

Allele description

NM_000546.5(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_000546.5(TP53):c.215C>G (p.Pro72Arg)

HGVS:

NC_000017.11:g.7676154G>C
NG_017013.2:g.16397C>G
NM_000546.5:c.215C>G
NM_001126112.2:c.215C>G
NM_001126113.2:c.215C>G
NM_001126114.2:c.215C>G
NM_001126115.1:c.-939C>G
NM_001126116.1:c.-939C>G
NM_001126117.1:c.-939C>G
NM_001126118.1:c.98C>G
NP_000537.3:p.Pro72Arg
NP_001119584.1:p.Pro72Arg
NP_001119585.1:p.Pro72Arg
NP_001119586.1:p.Pro72Arg
NP_001119590.1:p.Pro33Arg
LRG_321t1:c.215C>G
LRG_321t2:c.215C>G
LRG_321t3:c.215C>G
LRG_321t4:c.215C>G
LRG_321t5:c.-939C>G
LRG_321t6:c.-939C>G
LRG_321t7:c.-939C>G
LRG_321t8:c.98C>G
LRG_321:g.16397C>G
LRG_321p1:p.Pro72Arg
LRG_321p3:p.Pro72Arg
LRG_321p4:p.Pro72Arg
LRG_321p8:p.Pro33Arg
NC_000017.10:g.7579472G>C
NM_000546.4:c.215C>G
NM_001126115.1:c.-278-661C>G
NM_001126116.1:c.-278-661C>G
NM_001126117.1:c.-278-661C>G
P04637:p.Pro72Arg
p.P72R

Protein change:

P33R; PRO72ARG

Links:

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

GMAF:

0.4571(G), 1042522

NCBI 1000 Genomes Browser:

rs1042522

Allele Frequency:

0.63, GO-ESP

Molecular consequence:

NM_001126115.1:c.-939C>G - 2KB upstream variant - [Sequence Ontology: SO:0001636]
NM_000546.5:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000086398	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000111071	Emory Genetics Laboratory,Emory University	criteria provided, single submitter (EGL Classification Definitions)	Benign (Dec 3, 2014)	germline	clinical testing	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

SCV000086398

ITMI

no classification provided

not provided

germline

reference population

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

SCV000111071

Emory Genetics Laboratory,Emory University

criteria provided, single submitter

(EGL Classification Definitions)

Benign
(Dec 3, 2014)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	88	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]

PMID:: 23757202

Details of each submission

From ITMI, SCV000086398.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0.37209999999999999	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0.5222	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0.41	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0.55649999999999999	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0.74129999999999996	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0.69489999999999996	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.64529999999999998	not provided	not provided

From Emory Genetics Laboratory,Emory University, SCV000111071.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	88	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		88	not provided	not provided	not provided

Last Updated: Sep 24, 2016

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