NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup) AND Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1999
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:: RCV000009770.4

Allele description [Variation Report for NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup)]

NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup)

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.1405GAC[7] (p.Asp472_Asp473dup)

HGVS:

NC_000019.10:g.18786036TCG[7]
NG_007070.1:g.10256GAC[7]
NM_000095.2:c.1414_1419dup6
NM_000095.3:c.1405GAC[7]MANE SELECT
NP_000086.2:p.Asp472_Asp473dup
NC_000019.9:g.18896846TCG[7]

Links:

OMIM: 600310.0011

Molecular consequence:

NM_000095.3:c.1405GAC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029991	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029991

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1999)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.

Délot E, King LM, Briggs MD, Wilcox WR, Cohn DH.

Hum Mol Genet. 1999 Jan;8(1):123-8.

PubMed [citation]

PMID:: 9887340

Details of each submission

From OMIM, SCV000029991.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a sporadic case of pseudoachondroplasia (PSACH; 177170), Delot et al. (1999) identified an expansion of the short trinucleotide repeat, (GAC)5, located at cDNA dinucleotides 1430 to 1444 of the COMP gene. The patient was found to be heterozygous for a (GAC)7 allele. The diagnosis of typical PSACH had been established at 3 years of age.

#	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: Oct 8, 2024

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