NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) AND Stickler syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Jul 1, 1993)

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:
RCV000018909.30

Allele description [Variation Report for NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)]

NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)
Other names:
P846*
HGVS:
  • NC_000012.12:g.47977627del
  • NG_008072.1:g.31876del
  • NM_001844.5:c.3138delMANE SELECT
  • NM_033150.3:c.2931del
  • NP_001835.3:p.Gly1047fs
  • NP_149162.2:p.Gly978fs
  • NC_000012.11:g.48371410del
  • NM_001844.4:c.3138delT
  • p.Gly1047fs
Protein change:
G1047fs; PRO846TER
Links:
OMIM: 120140.0015; dbSNP: rs121912873
NCBI 1000 Genomes Browser:
rs121912873
Molecular consequence:
  • NM_001844.5:c.3138del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.2931del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039193OMIMno assertion criteria providedPathogenic
(Jul 1, 1993)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.

Ritvaniemi P, Hyland J, Ignatius J, Kivirikko KI, Prockop DJ, Ala-Kokko L.

Genomics. 1993 Jul;17(1):218-21.

PubMed [citation]
PMID:
8406454

Details of each submission

From OMIM, SCV000039193.2

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

Description

In a family with Stickler syndrome (STL1; 108300) in members of 4 successive generations, Ritvaniemi et al. (1993) found a deletion of a T in the third base position of the codon CCT for proline at position 846 of the collagen II alpha-1 chain. The deletion of the T shifted the reading frame and generated premature termination. Ritvaniemi et al. (1993) stated that this was the fourth example of a premature termination codon causing Stickler syndrome.

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

Last Updated: Dec 9, 2021

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