U.S. flag

An official website of the United States government

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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1993
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
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.3138del
  • 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039193OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1993) 		germlineliterature only

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

Help

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: Sep 16, 2024