NM_000546.5(TP53):c.701A>G (p.Tyr234Cys)

Variation ID: Help
127820
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic/Likely pathogenic
Last evaluated:
May 31, 2016
Number of submission(s):
16
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000546.5(TP53):c.701A>G (p.Tyr234Cys)

Allele ID:
133277
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
  • Chr17: 7674262 (on Assembly GRCh38)
  • Chr17: 7577580 (on Assembly GRCh37)
Other names:
  • p.Y234C:TAC>TGC
Protein change:
Y102C, Y195C, Y234C
HGVS:
  • NG_017013.2:g.18289A>G
  • NM_000546.5:c.701A>G
  • NM_001126112.2:c.701A>G
  • NM_001126113.2:c.701A>G
  • NM_001126114.2:c.701A>G
  • NM_001126115.1:c.305A>G
  • NM_001126116.1:c.305A>G
  • NM_001126117.1:c.305A>G
  • NM_001126118.1:c.584A>G
  • NP_000537.3:p.Tyr234Cys
  • NP_001119584.1:p.Tyr234Cys
  • NP_001119585.1:p.Tyr234Cys
  • NP_001119586.1:p.Tyr234Cys
  • NP_001119587.1:p.Tyr102Cys
  • NP_001119588.1:p.Tyr102Cys
  • NP_001119589.1:p.Tyr102Cys
  • NP_001119590.1:p.Tyr195Cys
  • NC_000017.11:g.7674262T>C (GRCh38)
  • LRG_321t1:c.701A>G
  • LRG_321t2:c.701A>G
  • LRG_321t3:c.701A>G
  • LRG_321t4:c.701A>G
  • LRG_321t5:c.305A>G
  • LRG_321t6:c.305A>G
  • LRG_321t7:c.305A>G
  • LRG_321t8:c.584A>G
  • NC_000017.10:g.7577580T>C (GRCh37)
  • NM_000546.4:c.701A>G
  • P04637:p.Tyr234Cys
  • LRG_321p1:p.Tyr234Cys
  • LRG_321p3:p.Tyr234Cys
  • LRG_321p4:p.Tyr234Cys
  • LRG_321p5:p.Tyr102Cys
  • LRG_321p6:p.Tyr102Cys
  • LRG_321p7:p.Tyr102Cys
  • LRG_321p8:p.Tyr195Cys
  • LRG_321:g.18289A>G
Links:
NCBI 1000 Genomes Browser:
rs587780073
Molecular consequence:
NM_000546.5:c.701A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00001 (C)

Variant frequency in dbGaP Help

NM_000546.5(TP53):c.701A>G (p.Tyr234Cys)

GRCh37 Chr17:7577580
Called variantsPotential variants
Sample countno data0 of 41561

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
Pathogenic
(Mar 10, 2014)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000149641.9
    Likely pathogenic
    (Mar 13, 2015)
    criteria provided, single submitter
    clinical testinggermline
      InvitaeSCV000253701.1

      Somatic

      Clinical significance
      (Last evaluated)
      Review status
      (Assertion method)
      Collection methodCondition(s)
      (Mode of inheritance)
      OriginCitationsSubmitter - Study nameSubmission accession
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature only
      • Pancreatic adenocarcinoma[MedGen]
      somaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510285.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature only
      • Squamous cell carcinoma of lung[MedGen]
      somaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510286.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510287.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature only
      • Adenocarcinoma of prostate[MedGen]
      somaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510288.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature only
      • Adenocarcinoma of stomach[MedGen]
      somaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510289.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510290.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510291.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510292.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature only
      • Colorectal Neoplasms[MeSH | MedGen]
      somaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510293.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature only
      • Ovarian Serous Cystadenocarcinoma[MedGen]
      somaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510294.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510295.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510296.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510297.1
      Likely pathogenic
      (May 31, 2016)
      no assertion criteria providedliterature only
      • Neoplasm of breast[MeSH | MedGen]
      somaticDatabase of Curated Mutations (DoCM)
      Study description
      SCV000510298.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermline, somaticnot providednot provided
      Database of Curated Mutations (DoCM)not providednot providedsomaticnot 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
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Mar 19, 2017