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NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) AND Otospondylomegaepiphyseal dysplasia, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2005
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:
RCV000018666.24

Allele description [Variation Report for NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)]

NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)
Other names:
R845*
HGVS:
  • NC_000006.12:g.33167822G>A
  • NG_011589.1:g.29647C>T
  • NM_080679.3:c.3670C>T
  • NM_080680.3:c.3991C>TMANE SELECT
  • NM_080681.3:c.3733C>T
  • NP_542410.2:p.Arg1224Ter
  • NP_542411.2:p.Arg1331Ter
  • NP_542412.2:p.Arg1245Ter
  • NC_000006.11:g.33135599G>A
Protein change:
R1224*; ARG845TER
Links:
OMIM: 120290.0009; dbSNP: rs121912951
NCBI 1000 Genomes Browser:
rs121912951
Molecular consequence:
  • NM_080679.3:c.3670C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_080680.3:c.3991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_080681.3:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB)
Synonyms:
Nance Sweeney chondrodysplasia; Chondrodystrophy with sensorineural deafness; Insley-Astley syndrome
Identifiers:
MONDO: MONDO:0044206; MedGen: C5551484; Orphanet: 1427; OMIM: 215150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038949OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2005) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.

Am J Hum Genet. 2000 Feb;66(2):368-77.

PubMed [citation]
PMID:
10677296
PMCID:
PMC1288089

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS.

Am J Med Genet A. 2005 Jan 1;132A(1):33-5.

PubMed [citation]
PMID:
15558753

Details of each submission

From OMIM, SCV000038949.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In male twins with otospondylomegaepiphyseal dysplasia (OSMEDB; 215150), who were born to nonconsanguineous parents of northern European descent, Melkoniemi et al. (2000) identified compound heterozygous mutations in the COL11A2 gene: a 3991C-T transition, resulting in an arg845-to-ter (R845X) substitution, inherited from the father, and a splice site mutation (IVS53+5G-A) inherited from the mother.

In 5 individuals from a consanguineous Israeli Bedouin family with OSMED, who had a clinical diagnosis of autosomal recessive Weissenbacher-Zweymuller syndrome, Harel et al. (2005) identified homozygosity for the R845X mutation.

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

Last Updated: Feb 20, 2024