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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Klebsormidium sp. Z JS-2020 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1805526486|gb|MT020788.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000050599	OMIM	no assertion criteria provided	Pathogenic (May 1, 2002)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 7670472, 9463320, 11968079

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000050599

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2002)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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