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NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr) AND Progressive pseudorheumatoid dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 1999
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:
RCV000006751.4

Allele description [Variation Report for NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr)]

NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr)

Gene:
CCN6:cellular communication network factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr)
HGVS:
  • NC_000006.12:g.112064842G>A
  • NG_011748.1:g.15768G>A
  • NM_003880.4:c.434G>A
  • NM_198239.2:c.434G>AMANE SELECT
  • NP_003871.1:p.Cys145Tyr
  • NP_937882.2:p.Cys145Tyr
  • NC_000006.11:g.112386045G>A
  • NR_125353.2:n.688G>A
  • NR_125354.3:n.515G>A
Protein change:
C145Y; CYS145TYR
Links:
OMIM: 603400.0001; dbSNP: rs121908899
NCBI 1000 Genomes Browser:
rs121908899
Molecular consequence:
  • NM_003880.4:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198239.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_125353.2:n.688G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_125354.3:n.515G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Progressive pseudorheumatoid dysplasia (PPRD)
Synonyms:
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; Spondyloepiphyseal dysplasia tarda progressive arthropathy; Autosomal recessive spondyloepiphyseal dysplasia tarda; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008827; MedGen: C0432215; Orphanet: 1159; OMIM: 208230

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026943OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1999) 		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

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML.

Nat Genet. 1999 Sep;23(1):94-8.

PubMed [citation]
PMID:
10471507

Details of each submission

From OMIM, SCV000026943.3

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

Description

In an Italian family with progressive pseudorheumatoid arthropathy (PPRD; 208230), Hurvitz et al. (1999) found compound heterozygosity for a G-to-A transition at nucleotide 434 of the WISP3 gene, resulting in a cys145-to-tyr (C145Y) substitution, and a G-to-A transition at nucleotide 993 of the WISP3 gene, resulting in a trp331-to-ter substitution (W331X; 603400.0002).

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

Last Updated: Aug 5, 2023