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NM_000095.3(COMP):c.1747G>A (p.Glu583Lys) AND Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000033884.5

Allele description [Variation Report for NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)]

NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)

Gene:
COMP:cartilage oligomeric matrix protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)
HGVS:
  • NC_000019.10:g.18785063C>T
  • NG_007070.1:g.11242G>A
  • NM_000095.3:c.1747G>AMANE SELECT
  • NP_000086.2:p.Glu583Lys
  • NC_000019.9:g.18895873C>T
  • NM_000095.2:c.1747G>A
Protein change:
E583K
Links:
dbSNP: rs312262899
NCBI 1000 Genomes Browser:
rs312262899
Molecular consequence:
  • NM_000095.3:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (PSACH)
Synonyms:
Pseudoachondroplasia; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia
Identifiers:
MONDO: MONDO:0008322; MedGen: C0410538; Orphanet: 750; OMIM: 177170

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000057792GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000057792.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 2, 2023