NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) AND Spondyloepiphyseal dysplasia congenita

Clinical significance:Uncertain significance (Last evaluated: Jan 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000018928.25

Allele description [Variation Report for NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)]

NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
HGVS:
  • NC_000012.12:g.47974090G>A
  • NG_008072.1:g.35413C>T
  • NM_001844.5:c.4316C>TMANE SELECT
  • NM_033150.3:c.4109C>T
  • NP_001835.3:p.Thr1439Met
  • NP_149162.2:p.Thr1370Met
  • NC_000012.11:g.48367873G>A
  • NM_001844.4:c.4316C>T
  • P02458:p.Thr1439Met
Protein change:
T1370M; THR1370MET
Links:
UniProtKB: P02458#VAR_017105; OMIM: 120140.0035; dbSNP: rs121912886
NCBI 1000 Genomes Browser:
rs121912886
Molecular consequence:
  • NM_001844.5:c.4316C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.4109C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Spondyloepiphyseal dysplasia congenita (SEDC)
Synonyms:
SED congenita; Spondyloepiphyseal dysplasia, congenital type
Identifiers:
MONDO: MONDO:0008471; MedGen: C2745959; Orphanet: 94068; OMIM: 183900; Human Phenotype Ontology: HP:0002655

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039213OMIMno assertion criteria providedPathogenic
(Nov 22, 2001)
germlineliterature only

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

SCV000923488Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Uncertain significance
(Jan 1, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.

Am J Med Genet. 2001 Nov 22;104(2):140-6.

PubMed [citation]
PMID:
11746045

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 OMIM, SCV000039213.1

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

Description

Unger et al. (2001) reported a child with double heterozygosity for pseudoachondroplasia (177170), resulting from a mutation in the COMP gene (600310.0014) and spondyloepiphyseal dysplasia congenita (183900), resulting from a thr1370-to-met mutation in the COL2A1 gene. The child inherited pseudoachondroplasia from his mother and spondyloepiphyseal dysplasia congenita from his father. He had clinical and radiographic findings that were more severe than those in either disorder alone.

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

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000923488.1

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

Last Updated: Sep 7, 2021

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