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NM_001853.4(COL9A3):c.369+2T>C

Variation ID: Help
374320
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 23, 2014
Number of submission(s):
1
Condition(s):
Multiple epiphyseal dysplasia 3[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001853.4(COL9A3):c.369+2T>C

Allele ID:
361234
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
  • Chr20: 62821532 (on Assembly GRCh38)
  • Chr20: 61452884 (on Assembly GRCh37)
HGVS:
  • NG_016353.1:g.9471T>C
  • NM_001853.4:c.369+2T>C
  • NC_000020.11:g.62821532T>C (GRCh38)
  • LRG_1253t1:c.369+2T>C
  • NC_000020.10:g.61452884T>C (GRCh37)
  • NM_001853.3:c.369+2T>C
  • LRG_1253:g.9471T>C
Links:
NCBI 1000 Genomes Browser:
rs1057518693
Molecular consequence:
NM_001853.4:c.369+2T>C: splice donor variant [Sequence Ontology SO:0001575]

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
Pathogenic
(Sep 23, 2014)
no assertion criteria providedclinical testing
  • Multiple epiphyseal dysplasia 3 (Autosomal dominant inheritance)[MedGen | OMIM]
maternal
    Baylor Miraca Genetics Laboratories,SCV000328799.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Baylor Miraca Genetics Laboratories,11maternalHispanic Americansnot providednot providedThis variant affects the canon…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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