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NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp) AND Metaphyseal chondrodysplasia, Schmid type

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2019
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:
RCV001293671.1

Allele description [Variation Report for NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp)]

NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp)

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.1843T>G (p.Tyr615Asp)
HGVS:
  • NC_000006.12:g.116120273A>C
  • NG_008032.1:g.10861T>G
  • NG_021351.1:g.24438A>C
  • NG_021351.2:g.24422A>C
  • NM_000493.4:c.1843T>GMANE SELECT
  • NM_001424106.1:c.1843T>G
  • NM_001424107.1:c.1843T>G
  • NM_152729.3:c.529+2328A>CMANE SELECT
  • NP_000484.2:p.Tyr615Asp
  • NP_001411035.1:p.Tyr615Asp
  • NP_001411036.1:p.Tyr615Asp
  • NC_000006.11:g.116441436A>C
  • NM_000493.3:c.1843T>G
Protein change:
Y615D
Links:
dbSNP: rs1779072705
NCBI 1000 Genomes Browser:
rs1779072705
Molecular consequence:
  • NM_152729.3:c.529+2328A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000493.4:c.1843T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001424106.1:c.1843T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001424107.1:c.1843T>G - 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
SCV001482314Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
no assertion criteria provided
Likely pathogenic
(May 31, 2019) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital, SCV001482314.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024