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NM_000546.6(TP53):c.215C>G (p.Pro72Arg) AND Lip and oral cavity carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 2019
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:
RCV001255631.1

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]

Condition(s)

Name:
Lip and oral cavity carcinoma
Identifiers:
MONDO: MONDO:0023644; MedGen: C0220641

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432167Institute of Medical Sciences, Banaras Hindu University
no assertion criteria provided
Pathogenic
(Apr 30, 2019) 		somaticresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes5not providednot providednot providednot providedresearch

Citations

PubMed

Mutational spectrum of tobacco associated oral squamous carcinoma and its therapeutic significance.

Batta N, Pandey M.

World J Surg Oncol. 2019 Nov 27;17(1):198. doi: 10.1186/s12957-019-1741-2.

PubMed [citation]
PMID:
31775759
PMCID:
PMC6882338

Details of each submission

From Institute of Medical Sciences, Banaras Hindu University, SCV001432167.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided5not providednot providednot provided

Last Updated: Jun 18, 2022