NM_001844.4(COL2A1):c.1957C>T (p.Arg653Ter)

Variation ID: Help
17395
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001844.4(COL2A1):c.1957C>T (p.Arg653Ter)

Allele ID:
32434
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.1
Genomic location:
  • Chr12: 47983721 (on Assembly GRCh38)
  • Chr12: 48377504 (on Assembly GRCh37)
Protein change:
R453*, R584*, R653*
HGVS:
  • NG_008072.1:g.25782C>T
  • NM_001844.4:c.1957C>T
  • NM_033150.2:c.1750C>T
  • NP_001835.3:p.Arg653Ter
  • NP_149162.2:p.Arg584Ter
  • NC_000012.12:g.47983721G>A (GRCh38)
  • NC_000012.11:g.48377504G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121912893
Molecular consequence:
NM_001844.4:c.1957C>T: nonsense [Sequence Ontology SO:0001587]

Variant frequency in dbGaP Help

NM_001844.4(COL2A1):c.1957C>T (p.Arg653Ter)

GRCh37 Chr12:48377504
Called variantsPotential variants
Sample countno data0 of 39688

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
(Feb 10, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000568539.1
    Pathogenic
    (Sep 1, 2003)
    no assertion criteria providedliterature onlygermlineOMIMSCV000039224.3
    Pathogenic
    (Sep 1, 2003)
    no assertion criteria providedliterature only
    • Rhegmatogenous retinal detachment, autosomal dominant[MedGen]
    germlineOMIMSCV000039225.3
    Pathogenic
    (Sep 11, 2014)
    no assertion criteria providedliterature onlygermlineGeneReviewsSCV000190933.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedhe R653X variant in the COL2A1…Full description
    GeneReviewsnot providednot providedgermlinenot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 22, 2017