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NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro) 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:
RCV003325999.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)]

NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)

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.1679G>C (p.Arg560Pro)
HGVS:
  • NC_000012.12:g.47985729C>G
  • NG_008072.1:g.23774G>C
  • NM_001844.5:c.1679G>CMANE SELECT
  • NM_033150.3:c.1472G>C
  • NP_001835.3:p.Arg560Pro
  • NP_149162.2:p.Arg491Pro
  • NC_000012.11:g.48379512C>G
  • NM_001844.4:c.1679G>C
Protein change:
R491P
Links:
dbSNP: rs1186241291
NCBI 1000 Genomes Browser:
rs1186241291
Molecular consequence:
  • NM_001844.5:c.1679G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.1472G>C - 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:
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:
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:
Hypochondrogenesis
Identifiers:
MONDO: MONDO:0019669; MedGen: C0542428
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
SCV004032180GenomeConnect - Brain Gene Registry
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV004032180.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 02-21-2019 by Lab GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024