NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) AND Stickler syndrome, type I, nonsyndromic ocular

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2005)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018927.29

Allele description [Variation Report for NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)]

NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)

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.1999C>T (p.Leu667Phe)
Other names:
L467F
HGVS:
  • NC_000012.12:g.47983435G>A
  • NG_008072.1:g.26068C>T
  • NM_001844.5:c.1999C>TMANE SELECT
  • NM_033150.3:c.1792C>T
  • NP_001835.3:p.Leu667Phe
  • NP_149162.2:p.Leu598Phe
  • NC_000012.11:g.48377218G>A
  • NM_001844.4:c.1999C>T
  • P02458:p.Leu667Phe
  • p.Leu467Phe
Protein change:
L598F; LEU467PHE
Links:
UniProtKB: P02458#VAR_023928; OMIM: 120140.0034; dbSNP: rs121912885
NCBI 1000 Genomes Browser:
rs121912885
Molecular consequence:
  • NM_001844.5:c.1999C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.1792C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039212OMIMno assertion criteria providedPathogenic
(Feb 1, 2005)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP.

Am J Hum Genet. 2000 Nov;67(5):1083-94. Epub 2000 Sep 25.

PubMed [citation]
PMID:
11007540
PMCID:
PMC1288550

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8.

PubMed [citation]
PMID:
15671297

Details of each submission

From OMIM, SCV000039212.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Richards et al. (2000) observed a leu467-to-phe (L467F) mutation of the COL2A1 gene in a family with Stickler syndrome (STL1; 108300) which produced an unusual 'afibrillar' vitreous gel devoid of all normal lamellar structure. Systemic involvement was mild, with many family members lacking joint laxity or radiologic abnormality, hearing loss, midface hypoplasia, abnormal nasal development, and midline clefting. Richards et al. (2005) referred to the phenotype in this family as an atypical form of Stickler syndrome/dominant rhegmatogenous retinal detachment (609508). They noted that the amino acid substitution arose from a 20996C-T transition.

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

Last Updated: Jan 22, 2022

Support Center