NM_001844.4(COL2A1):c.2965C>T (p.Arg989Cys)

Variation ID: Help
17366
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 1, 1997
Number of submission(s):
1
Condition(s):
Spondyloepiphyseal dysplasia congenita[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001844.4(COL2A1):c.2965C>T (p.Arg989Cys)

Allele ID:
32405
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.1
Genomic location:
  • Chr12: 47978329 (on Assembly GRCh38)
  • Chr12: 48372112 (on Assembly GRCh37)
Protein change:
R789C, R920C, R989C
HGVS:
  • NG_008072.1:g.31174C>T
  • NM_001844.4:c.2965C>T
  • NM_033150.2:c.2758C>T
  • NP_001835.3:p.Arg989Cys
  • NP_149162.2:p.Arg920Cys
  • NC_000012.12:g.47978329G>A (GRCh38)
  • NC_000012.11:g.48372112G>A (GRCh37)
  • P02458:p.Arg989Cys
Links:
NCBI 1000 Genomes Browser:
rs121912874
Molecular consequence:
NM_001844.4:c.2965C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_001844.4(COL2A1):c.2965C>T (p.Arg989Cys)

GRCh37 Chr12:48372112
Called variantsPotential variants
Sample countno data0 of 43905

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.

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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
Pathogenic
(Jan 1, 1997)
no assertion criteria providedliterature onlygermlineOMIMSCV000039194.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Apr 7, 2017