NM_000095.3(COMP):c.1123_1134del (p.Ile375_Asp378del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2023
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:: RCV003690084.1

Allele description [Variation Report for NM_000095.3(COMP):c.1123_1134del (p.Ile375_Asp378del)]

NM_000095.3(COMP):c.1123_1134del (p.Ile375_Asp378del)

Gene:

COMP:cartilage oligomeric matrix protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_000095.3(COMP):c.1123_1134del (p.Ile375_Asp378del)

HGVS:

NC_000019.10:g.18787496_18787507del
NG_007070.1:g.8803_8814del
NG_007070.2:g.8802_8813del
NM_000095.3:c.1123_1134delMANE SELECT
NP_000086.2:p.Ile375_Asp378del
NC_000019.9:g.18898301_18898312del
NC_000019.9:g.18898305_18898316del

Molecular consequence:

NM_000095.3:c.1123_1134del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004431271	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 9, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34709441, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004431271

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 9, 2023)

germline

clinical testing

PubMed (2)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.

Liang H, Hou Y, Pang Q, Jiang Y, Wang O, Li M, Xing X, Zhu H, Xia W.

Calcif Tissue Int. 2022 Mar;110(3):313-323. doi: 10.1007/s00223-021-00920-6. Epub 2021 Oct 28.

PubMed [citation]

PMID:: 34709441

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004431271.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant, c.1123_1134del, results in the deletion of 4 amino acid(s) of the COMP protein (p.Ile375_Asp378del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with multiple epiphyseal dysplasia (PMID: 34709441). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 28, 2024

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