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NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg) AND Metaphyseal chondrodysplasia, Schmid type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 26, 1995
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:
RCV000019026.31

Allele description [Variation Report for NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg)]

NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg)

Genes:
NT5DC1:5'-nucleotidase domain containing 1 [Gene - HGNC]
COL10A1:collagen type X alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.1
Genomic location:
Preferred name:
NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg)
HGVS:
  • NC_000006.12:g.116120165A>G
  • NG_008032.1:g.10969T>C
  • NG_021351.1:g.24330A>G
  • NG_021351.2:g.24314A>G
  • NM_000493.4:c.1951T>CMANE SELECT
  • NM_001424106.1:c.1951T>C
  • NM_001424107.1:c.1951T>C
  • NM_152729.3:c.529+2220A>GMANE SELECT
  • NP_000484.2:p.Trp651Arg
  • NP_001411035.1:p.Trp651Arg
  • NP_001411036.1:p.Trp651Arg
  • NC_000006.11:g.116441328A>G
  • Q03692:p.Trp651Arg
Protein change:
W651R; TRP651ARG
Links:
UniProtKB: Q03692#VAR_023191; OMIM: 120110.0011; dbSNP: rs111033549
NCBI 1000 Genomes Browser:
rs111033549
Molecular consequence:
  • NM_152729.3:c.529+2220A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000493.4:c.1951T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001424106.1:c.1951T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001424107.1:c.1951T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Metaphyseal chondrodysplasia, Schmid type (MCDS)
Synonyms:
SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
Identifiers:
MONDO: MONDO:0007983; MedGen: C0265289; Orphanet: 174; OMIM: 156500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039313OMIM
no assertion criteria provided
Pathogenic
(Dec 26, 1995) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.

Pokharel RK, Alimsardjono H, Uno K, Fujii S, Shiba R, Matsuo M.

Biochem Biophys Res Commun. 1995 Dec 26;217(3):1157-62.

PubMed [citation]
PMID:
8554571

Details of each submission

From OMIM, SCV000039313.4

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

Description

In a Japanese family with Schmid metaphyseal chondrodysplasia (MCDS; 156500), Pokharel et al. (1995) found that affected members had a T-to-C transition at nucleotide 1951 of COL10A1 that resulted in replacement of tryptophan by arginine at residue 651 (W651R). This novel mutation seemed to have the same impact on bone development as the W651X mutation (120110.0010).

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

Last Updated: Sep 29, 2024