NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000763850.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)]

NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)

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.803C>T (p.Pro268Leu)
HGVS:
  • NC_000012.12:g.47994437G>A
  • NG_008072.1:g.15066C>T
  • NM_001844.5:c.803C>TMANE SELECT
  • NM_033150.3:c.596C>T
  • NP_001835.3:p.Pro268Leu
  • NP_149162.2:p.Pro199Leu
  • NC_000012.11:g.48388220G>A
  • NM_001844.4:c.803C>T
Protein change:
P199L
Links:
dbSNP: rs142770543
NCBI 1000 Genomes Browser:
rs142770543
Molecular consequence:
  • NM_001844.5:c.803C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.596C>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:
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:
Epiphyseal dysplasia, multiple, with myopia and conductive deafness (EDMMD)
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: C0023234; 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:
Osteoarthritis with mild chondrodysplasia
Identifiers:
MONDO: MONDO:0011496; MedGen: C0432214; OMIM: 604864
Name:
Spondyloperipheral dysplasia-short ulna syndrome
Synonyms:
Spondyloperipheral dysplasia; Spondyloperipheral dysplasia with short ulna
Identifiers:
MONDO: MONDO:0010078; MedGen: C0796173; OMIM: 271700
Name:
Stickler syndrome type 1 (STL1)
Synonyms:
Stickler syndrome, vitreous type 1; Stickler syndrome, membranous vitreous type; Arthroophthalmopathy, hereditary progressive
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:
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:
Czech dysplasia, metatarsal type
Synonyms:
Pseudorheumatoid dysplasia progressive, with hypoplastic toes; 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 (SEDSTN)
Synonyms:
SED, STANESCU TYPE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE
Identifiers:
MONDO: MONDO:0014701; MedGen: C4225273; OMIM: 616583

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000894780Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

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

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000894780.1

#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: Dec 4, 2021

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