NM_000546.5(TP53):c.817C>T (p.Arg273Cys)

Variation ID: Help
43594
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000546.5(TP53):c.817C>T (p.Arg273Cys)

Allele ID:
52763
Variant type:
single nucleotide variant
Cytogenetic location:
17p13
Genomic location:
  • Chr17: 7673803 (on Assembly GRCh38)
  • Chr17: 7577121 (on Assembly GRCh37)
Protein change:
R141C, R234C, R273C
HGVS:
  • NG_017013.2:g.18748C>T
  • NM_000546.5:c.817C>T
  • NM_001126112.2:c.817C>T
  • NM_001126113.2:c.817C>T
  • NM_001126114.2:c.817C>T
  • NM_001126115.1:c.421C>T
  • NM_001126116.1:c.421C>T
  • NM_001126117.1:c.421C>T
  • NM_001126118.1:c.700C>T
  • NP_000537.3:p.Arg273Cys
  • NP_001119584.1:p.Arg273Cys
  • NP_001119585.1:p.Arg273Cys
  • NP_001119586.1:p.Arg273Cys
  • NP_001119587.1:p.Arg141Cys
  • NP_001119588.1:p.Arg141Cys
  • NP_001119589.1:p.Arg141Cys
  • NP_001119590.1:p.Arg234Cys
  • NC_000017.11:g.7673803G>A (GRCh38)
  • LRG_321t1:c.817C>T
  • LRG_321t2:c.817C>T
  • LRG_321t3:c.817C>T
  • LRG_321t4:c.817C>T
  • LRG_321t5:c.421C>T
  • LRG_321t6:c.421C>T
  • LRG_321t7:c.421C>T
  • LRG_321t8:c.700C>T
  • NC_000017.10:g.7577121G>A (GRCh37)
  • NM_000546.4:c.817C>T
  • P04637:p.Arg273Cys
  • LRG_321p1:p.Arg273Cys
  • LRG_321p3:p.Arg273Cys
  • LRG_321p4:p.Arg273Cys
  • LRG_321p5:p.Arg141Cys
  • LRG_321p6:p.Arg141Cys
  • LRG_321p7:p.Arg141Cys
  • LRG_321p8:p.Arg234Cys
  • LRG_321:g.18748C>T
Links:
NCBI 1000 Genomes Browser:
rs121913343
Molecular consequence:
NM_000546.5:c.817C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00001 (A)

Variant frequency in dbGaP Help

NM_000546.5(TP53):c.817C>T (p.Arg273Cys)

GRCh37 Chr17:7577121
Called variantsPotential variants
Sample countno data0 of 41554

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Aug 5, 2010)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000060191.4
Pathogenic
(Apr 23, 2015)
criteria provided, single submitter
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germline
    Ambry GeneticsSCV000187024.3
    Pathogenic
    (Mar 18, 2016)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000211760.6
      Pathogenic
      (Oct 4, 2015)
      criteria provided, single submitter
      clinical testinggermline
        InvitaeSCV000261042.1
        Pathogenic
        (Jul 24, 2014)
        no assertion criteria providedclinical testinggermlinePathway GenomicsSCV000189996.1

        Somatic

        Clinical significance
        (Last evaluated)
        Review status
        (Assertion method)
        Collection methodCondition(s)
        (Mode of inheritance)
        OriginCitationsSubmitter - Study nameSubmission accession
        Uncertain significanceno assertion criteria providedliterature onlysomaticScience for Life laboratory, Karolinska InstitutetSCV000088693.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submitters12germline, somaticnot providednot provided
        Ambry Geneticsnot provided1germlinenot providednot providednot providednot provided
        GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is denoted TP53 c…Full description
        Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
        Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedThe Arg273Cys variant has been…Full description
        Pathway Genomicsnot providednot providedgermlinenot providednot providednot provided
        Science for Life laboratory, Karolinska Institutetnot providednot providedsomaticnot providednot providedConverted during submission to…Full description
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Jan 7, 2017