NM_000546.5(TP53):c.488A>G (p.Tyr163Cys)

Variation ID: Help
127814
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic/Likely pathogenic
Last evaluated:
May 31, 2016
Number of submission(s):
15
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000546.5(TP53):c.488A>G (p.Tyr163Cys)

Allele ID:
133271
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
  • Chr17: 7675124 (on Assembly GRCh38)
  • Chr17: 7578442 (on Assembly GRCh37)
Other names:
  • p.Y163C:TAC>TGC
Protein change:
Y124C, Y163C, Y31C
HGVS:
  • NG_017013.2:g.17427A>G
  • NM_000546.5:c.488A>G
  • NM_001126112.2:c.488A>G
  • NM_001126113.2:c.488A>G
  • NM_001126114.2:c.488A>G
  • NM_001126115.1:c.92A>G
  • NM_001126116.1:c.92A>G
  • NM_001126117.1:c.92A>G
  • NM_001126118.1:c.371A>G
  • NP_000537.3:p.Tyr163Cys
  • NP_001119584.1:p.Tyr163Cys
  • NP_001119585.1:p.Tyr163Cys
  • NP_001119586.1:p.Tyr163Cys
  • NP_001119587.1:p.Tyr31Cys
  • NP_001119588.1:p.Tyr31Cys
  • NP_001119589.1:p.Tyr31Cys
  • NP_001119590.1:p.Tyr124Cys
  • NC_000017.11:g.7675124T>C (GRCh38)
  • LRG_321t1:c.488A>G
  • LRG_321t2:c.488A>G
  • LRG_321t3:c.488A>G
  • LRG_321t4:c.488A>G
  • LRG_321t5:c.92A>G
  • LRG_321t6:c.92A>G
  • LRG_321t7:c.92A>G
  • LRG_321t8:c.371A>G
  • NC_000017.10:g.7578442T>C (GRCh37)
  • NM_000546.4:c.488A>G
  • P04637:p.Tyr163Cys
  • LRG_321p1:p.Tyr163Cys
  • LRG_321p3:p.Tyr163Cys
  • LRG_321p4:p.Tyr163Cys
  • LRG_321p5:p.Tyr31Cys
  • LRG_321p6:p.Tyr31Cys
  • LRG_321p7:p.Tyr31Cys
  • LRG_321p8:p.Tyr124Cys
  • LRG_321:g.17427A>G
Links:
NCBI 1000 Genomes Browser:
rs148924904
Molecular consequence:
NM_000546.5:c.488A>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000546.5(TP53):c.488A>G (p.Tyr163Cys)

GRCh37 Chr17:7578442
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
(Oct 10, 2013)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000149634.9

    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
    • Neoplasm of brain[MeSH | MedGen]
    somaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510057.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature only
    • Squamous cell carcinoma of lung[MedGen]
    somaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510058.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510059.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510060.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature only
    • Uterine Carcinosarcoma[MedGen]
    somaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510061.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature only
    • Adenocarcinoma of lung[MeSH | MedGen]
    somaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510062.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature only
    • Ovarian Serous Cystadenocarcinoma[MedGen]
    somaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510063.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510064.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510065.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510066.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature only
    • Neoplasm of breast[MeSH | MedGen]
    somaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510067.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510068.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature only
    • Colorectal Neoplasms[MeSH | MedGen]
    somaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510069.1
    Likely pathogenic
    (May 31, 2016)
    no assertion criteria providedliterature only
    • Pancreatic adenocarcinoma[MedGen]
    somaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000510070.1
    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
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 22, 2017