U.S. flag

An official website of the United States government

NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del) AND Multiple epiphyseal dysplasia type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 22, 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:
RCV002290796.2

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]
Observations:
1

Condition(s)

Name:
Multiple epiphyseal dysplasia type 1
Identifiers:
MONDO: MONDO:0007561; MedGen: C1838280; Orphanet: 93308; OMIM: 132400

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002579663MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From MGZ Medical Genetics Center, SCV002579663.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024