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NM_001844.4(COL2A1):c.2618G>T (p.Gly873Val)

Variation ID: Help
547841
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
May 9, 2016
Number of submission(s):
1
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_001844.4(COL2A1):c.2618G>T (p.Gly873Val)

Allele ID:
538431
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
  • Chr12: 47980561 (on Assembly GRCh38)
  • Chr12: 48374344 (on Assembly GRCh37)
Protein change:
G873V
HGVS:
  • NG_008072.1:g.28942G>T
  • NM_001844.4:c.2618G>T
  • NP_001835.3:p.Gly873Val
  • NC_000012.12:g.47980561C>A (GRCh38)
  • NC_000012.11:g.48374344C>A (GRCh37)
Links:
dbSNP: rs886042009
NCBI 1000 Genomes Browser:
rs886042009
Molecular consequence:
NM_001844.4:c.2618G>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(May 9, 2016)
criteria provided, single submitter
clinical testingde novo
    Mayo Clinic Genetic Testing Laboratories,Mayo ClinicSCV000782438.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Mayo Clinic Genetic Testing Laboratories,Mayo Clinicnot providednot providedde novonot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 26, 2019

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