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NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del) AND Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV002259406.1

Allele description [Variation Report for NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)]

NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)

Gene:
COMP:cartilage oligomeric matrix protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)
HGVS:
  • NC_000019.10:g.18787505TCG[2]
  • NG_007070.1:g.8794GAC[2]
  • NM_000095.3:c.1114GAC[2]MANE SELECT
  • NP_000086.2:p.Asp374del
  • NC_000019.9:g.18898313_18898315del
  • NC_000019.9:g.18898314TCG[2]
  • NM_000095.3:c.1120_1122delMANE SELECT
Protein change:
D374del
Links:
OMIM: 600310.0018; dbSNP: rs1198060288
NCBI 1000 Genomes Browser:
rs1198060288
Molecular consequence:
  • NM_000095.3:c.1114GAC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000050599OMIM
no assertion criteria provided
Pathogenic
(May 1, 2002) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.

Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al.

Nat Genet. 1995 Jul;10(3):330-6.

PubMed [citation]
PMID:
7670472

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH.

Am J Hum Genet. 1998 Feb;62(2):311-9.

PubMed [citation]
PMID:
9463320
PMCID:
PMC1376889
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000050599.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In an individual with moderately severe pseudoachondroplasia (PSACH; 177170), Briggs et al. (1995) identified heterozygosity for a 3-bp deletion in exon 10 of the COMP gene, which eliminated a codon for an aspartic acid residue from the (GAC)3 repeat within the fourth calmodulin-like repeat. Due to the repeated sequence of nucleotides 1139-1147, it was not possible to determine which 3 nucleotides were deleted and, hence, which aspartic acid codon (372-374) was eliminated. The occurrence of the deletion in a series of direct repeats suggested that the mutation resulted from slipped mispairing during DNA replication.

In a patient with typical PSACH, Briggs et al. (1998) identified heterozygosity for a 3-bp deletion (delGAC 1139-1147) in the COMP gene. Chondrocytes from the patient showed the characteristic lamellar inclusions of the rough endoplasmic reticulum observed in PSACH.

Briggs and Chapman (2002) reviewed mutations in the COMP gene resulting in PSACH and, using nucleotide numbering from the start site of translation, designated this nucleotide change as 1114-1122 delGAC and the corresponding protein change as delD(372-374).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024