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NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 18, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001901762.4

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002176254Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Nov 18, 2021)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, et al.

Am J Med Genet A. 2011 Nov;155A(11):2669-80. doi: 10.1002/ajmg.a.34246. Epub 2011 Sep 30.

PubMed [citation]
PMID:
21965141
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002176254.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with multiple epiphyseal dysplasia and/or pseudoachondroplasia (PMID: 7670472, 21965141, 24595329). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This variant, c.1120_1122del, results in the deletion of 1 amino acid(s) of the COMP protein (p.Asp374del), but otherwise preserves the integrity of the reading frame.

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

Last Updated: Sep 29, 2024