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NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003093905.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)]

NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)

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.3397C>T (p.Arg1133Cys)
HGVS:
  • NC_000012.12:g.47976850G>A
  • NG_008072.1:g.32653C>T
  • NM_001844.5:c.3397C>TMANE SELECT
  • NM_033150.3:c.3190C>T
  • NP_001835.3:p.Arg1133Cys
  • NP_149162.2:p.Arg1064Cys
  • NC_000012.11:g.48370633G>A
Protein change:
R1064C
Links:
dbSNP: rs1938732355
NCBI 1000 Genomes Browser:
rs1938732355
Molecular consequence:
  • NM_001844.5:c.3397C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.3190C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Achondrogenesis type II (ACG2)
Synonyms:
ACHONDROGENESIS, LANGER-SALDINO TYPE; CHONDROGENESIS IMPERFECTA
Identifiers:
MONDO: MONDO:0008702; MedGen: C0220685; Orphanet: 932; OMIM: 200610
Name:
Kniest dysplasia
Identifiers:
MONDO: MONDO:0007987; MedGen: C0265279; Orphanet: 485; OMIM: 156550
Name:
Stickler syndrome type 1 (STL1)
Synonyms:
ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE; STICKLER SYNDROME, VITREOUS TYPE 1
Identifiers:
MONDO: MONDO:0007160; MedGen: C2020284; Orphanet: 828; OMIM: 108300
Name:
Platyspondylic dysplasia, Torrance type (PLSDT)
Synonyms:
Platyspondylic lethal skeletal dysplasia Torrance type; Lethal short-limbed platyspondylic dwarfism Torrance type; Thanatophoric dysplasia torrance variant
Identifiers:
MONDO: MONDO:0007895; MedGen: C1835437; Orphanet: 85166; OMIM: 151210
Name:
Spondyloepiphyseal dysplasia congenita (SEDC)
Synonyms:
SED CONGENITA; SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
Identifiers:
MONDO: MONDO:0008471; MedGen: C2745959; Orphanet: 94068; OMIM: 183900
Name:
Spondyloepiphyseal dysplasia with metatarsal shortening
Synonyms:
Pseudorheumatoid dysplasia progressive, with hypoplastic toes; CZECH DYSPLASIA, METATARSAL TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
Identifiers:
MONDO: MONDO:0012206; MedGen: C1836683; Orphanet: 137678; OMIM: 609162
Name:
Osteoarthritis
Synonyms:
OSTEOARTHROSIS
Identifiers:
MONDO: MONDO:0005178; MedGen: C0029408; Human Phenotype Ontology: HP:0002758
Name:
Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)
Synonyms:
DAPPLED METAPHYSIS SYNDROME; STRUDWICK SYNDROME; SMED Strudwick type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008476; MedGen: C0700635; Orphanet: 93346; OMIM: 184250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003761499GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV003761499.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant classified as Uncertain significance and reported on 12-10-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Jan 13, 2025