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NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 21, 2022
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:
RCV002493673.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)]

NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)

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.3007G>A (p.Glu1003Lys)
HGVS:
  • NC_000012.12:g.47978114C>T
  • NG_008072.1:g.31389G>A
  • NM_001844.5:c.3007G>AMANE SELECT
  • NM_033150.3:c.2800G>A
  • NP_001835.3:p.Glu1003Lys
  • NP_149162.2:p.Glu934Lys
  • NC_000012.11:g.48371897C>T
  • NM_001844.4:c.3007G>A
Protein change:
E1003K
Links:
dbSNP: rs376772481
NCBI 1000 Genomes Browser:
rs376772481
Molecular consequence:
  • NM_001844.5:c.3007G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.2800G>A - 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:
Multiple epiphyseal dysplasia, Beighton type
Synonyms:
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
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:
Osteoarthritis with mild chondrodysplasia; 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:
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 - Sutcliffe type
Synonyms:
Sutcliffe type of spondylometaphyseal dysplasia; Sutcliffe SMD; Spondylometaphyseal dysplasia, 'corner fracture' type
Identifiers:
MONDO: MONDO:0008479; MedGen: C0432221; Orphanet: 93315; OMIM: 184255
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:
Czech dysplasia, metatarsal type; 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:
Vitreoretinopathy with phalangeal epiphyseal dysplasia (VPED)
Identifiers:
MONDO: MONDO:0031001; MedGen: C1852989; OMIM: 619248
Name:
Spondyloepiphyseal dysplasia, Stanescu type
Synonyms:
SED, STANESCU TYPE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE
Identifiers:
MONDO: MONDO:0014701; MedGen: C4225273; OMIM: 616583
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
SCV002779260Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 21, 2022) 		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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002779260.1

#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: Jun 23, 2024