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NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000762896.10

Allele description [Variation Report for NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)]

NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)

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.1957C>T (p.Arg653Ter)
Other names:
R453*
HGVS:
  • NC_000012.12:g.47983721G>A
  • NG_008072.1:g.25782C>T
  • NM_001844.5:c.1957C>TMANE SELECT
  • NM_033150.3:c.1750C>T
  • NP_001835.3:p.Arg653Ter
  • NP_001835.3:p.Arg653Ter
  • NP_149162.2:p.Arg584Ter
  • NC_000012.11:g.48377504G>A
  • NM_001844.4:c.1957C>T
  • p.Arg453Ter
Protein change:
R584*; ARG453TER
Links:
OMIM: 120140.0045; dbSNP: rs121912893
NCBI 1000 Genomes Browser:
rs121912893
Molecular consequence:
  • NM_001844.5:c.1957C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033150.3:c.1750C>T - nonsense - [Sequence Ontology: SO:0001587]

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:
Avascular necrosis of femoral head, primary, 1 (ANFH1)
Synonyms:
Avascular necrosis of femoral head, primary
Identifiers:
MONDO: MONDO:0054550; MedGen: C4551562; Orphanet: 86820; OMIM: 608805
Name:
Multiple epiphyseal dysplasia, Beighton type
Identifiers:
MONDO: MONDO:0007562; MedGen: C1851536; Orphanet: 166011; OMIM: 132450
Name:
Legg-Calve-Perthes disease
Synonyms:
PERTHES DISEASE; Osteochondritis deformans; Coxa plana; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007885; MedGen: C1442965; Orphanet: 2380; OMIM: 150600; Human Phenotype Ontology: HP:0005743
Name:
Kniest dysplasia
Identifiers:
MONDO: MONDO:0007987; MedGen: C0265279; Orphanet: 485; OMIM: 156550
Name:
Namaqualand hip dysplasia (OSCDP)
Synonyms:
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Identifiers:
MONDO: MONDO:0011496; MedGen: C0432214; OMIM: 604864
Name:
Spondyloperipheral dysplasia
Synonyms:
SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA; Spondyloperipheral dysplasia-short ulna syndrome
Identifiers:
MONDO: MONDO:0010078; MedGen: C0796173; OMIM: 271700
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)
Identifiers:
MONDO: MONDO:0007895; MedGen: C1835437; Orphanet: 85166; OMIM: 151210
Name:
Spondylometaphyseal dysplasia
Identifiers:
MONDO: MONDO:0016763; MedGen: C4759767; OMIM: PS184255; Human Phenotype Ontology: HP:0002657
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:
Stickler syndrome, type I, nonsyndromic ocular
Synonyms:
STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR; STICKLER SYNDROME, ATYPICAL
Identifiers:
MONDO: MONDO:0012287; MedGen: C1836080; OMIM: 609508
Name:
Spondyloepiphyseal dysplasia, Stanescu type
Synonyms:
SED, STANESCU TYPE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE
Identifiers:
MONDO: MONDO:0014701; MedGen: C4225273; OMIM: 616583

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000893296Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000893296.1

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

Last Updated: Jul 5, 2025