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NM_000546.6(TP53):c.473G>A (p.Arg158His) AND Rhabdomyosarcoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2020
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:
RCV001257522.9

Allele description [Variation Report for NM_000546.6(TP53):c.473G>A (p.Arg158His)]

NM_000546.6(TP53):c.473G>A (p.Arg158His)

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.473G>A (p.Arg158His)
HGVS:
  • NC_000017.11:g.7675139C>T
  • NG_017013.2:g.17412G>A
  • NM_000546.6:c.473G>AMANE SELECT
  • NM_001126112.3:c.473G>A
  • NM_001126113.3:c.473G>A
  • NM_001126114.3:c.473G>A
  • NM_001126115.2:c.77G>A
  • NM_001126116.2:c.77G>A
  • NM_001126117.2:c.77G>A
  • NM_001126118.2:c.356G>A
  • NM_001276695.3:c.356G>A
  • NM_001276696.3:c.356G>A
  • NM_001276697.3:c.-5G>A
  • NM_001276698.3:c.-5G>A
  • NM_001276699.3:c.-5G>A
  • NM_001276760.3:c.356G>A
  • NM_001276761.3:c.356G>A
  • NP_000537.3:p.Arg158His
  • NP_000537.3:p.Arg158His
  • NP_001119584.1:p.Arg158His
  • NP_001119584.1:p.Arg158His
  • NP_001119585.1:p.Arg158His
  • NP_001119586.1:p.Arg158His
  • NP_001119587.1:p.Arg26His
  • NP_001119588.1:p.Arg26His
  • NP_001119589.1:p.Arg26His
  • NP_001119590.1:p.Arg119His
  • NP_001263624.1:p.Arg119His
  • NP_001263625.1:p.Arg119His
  • NP_001263689.1:p.Arg119His
  • NP_001263690.1:p.Arg119His
  • LRG_321t1:c.473G>A
  • LRG_321t2:c.473G>A
  • LRG_321:g.17412G>A
  • LRG_321:p.Arg158His
  • LRG_321p1:p.Arg158His
  • NC_000017.10:g.7578457C>T
  • NM_000546.4:c.473G>A
  • NM_000546.5:c.473G>A
  • NM_001126112.2:c.473G>A
  • P04637:p.Arg158His
  • p.R158H
Protein change:
R119H
Links:
UniProtKB: P04637#VAR_005907; dbSNP: rs587782144
NCBI 1000 Genomes Browser:
rs587782144
Molecular consequence:
  • NM_001276697.3:c.-5G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276698.3:c.-5G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276699.3:c.-5G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.77G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.77G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.77G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rhabdomyosarcoma
Synonyms:
Rhabdomyosarcoma (disease)
Identifiers:
MONDO: MONDO:0005212; MeSH: D012208; MedGen: C0035412; Human Phenotype Ontology: HP:0002859

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001434348Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(Sep 1, 2020) 		germlineprovider interpretation

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedprovider interpretation

Citations

PubMed

Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.

Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny D, Boerwinkle E, Gibbs RA, Chi YY, Barkauskas DA, Lo T, Hall D, Stewart DR, Schiffman JD, Skapek SX, Hawkins DS, Plon SE, Sabo A, Lupo PJ.

J Natl Cancer Inst. 2021 Jul 1;113(7):875-883. doi: 10.1093/jnci/djaa204.

PubMed [citation]
PMID:
33372952
PMCID:
PMC8246828

Details of each submission

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001434348.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 13, 2025