NM_001844.5(COL2A1):c.3978del (p.Asn1327fs) AND Stickler syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Nov 1, 1995)

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:
RCV000018916.28

Allele description [Variation Report for NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)]

NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)

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.3978del (p.Asn1327fs)
HGVS:
  • NC_000012.12:g.47974774del
  • NG_008072.1:g.34732del
  • NM_001844.5:c.3978delMANE SELECT
  • NM_033150.3:c.3771del
  • NP_001835.3:p.Asn1327fs
  • NP_149162.2:p.Asn1258fs
  • NC_000012.11:g.48368557del
Protein change:
N1258fs
Links:
OMIM: 120140.0023
Molecular consequence:
  • NM_001844.5:c.3978del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.3771del - 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
SCV000039201OMIMno assertion criteria providedPathogenic
(Nov 1, 1995)
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

Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene.

Ahmad NN, Dimascio J, Knowlton RG, Tasman WS.

Arch Ophthalmol. 1995 Nov;113(11):1454-7.

PubMed [citation]
PMID:
7487609

Details of each submission

From OMIM, SCV000039201.2

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

Description

By direct sequencing of the COL2A1 gene, Ahmad et al. (1995) demonstrated that affected members of a family with Stickler syndrome (STL1; 108300) had a single base deletion in exon 50, resulting in a premature stop codon in exon 51 in the globular C-propeptide of the COL2A1 gene. The deletion involved a cytosine at position 92 in exon 50. Three generations were affected in the family. The proband was referred for cataract and total retinal detachment in 1 eye at the age of 3 years. Marked genu valgum, hyperextensibility of joints, cleft palate, and flattened facies were noted. Mild hearing loss was also documented. The father's left eye had been blind since the age of 8 years secondary to a detached retina. Retinal detachment on the right occurred at the age of 39 years. He also showed hyperextensibility of joints and some spinal changes. The proband's paternal uncle suffered detached left retina after diving into a swimming pool at age 15 years. Hyperextensibility of joints and loss of hearing in the left ear were noted at the age of 35 years. Hyperextensible joints were present in other relatives and Pierre Robin syndrome was noted in some.

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

Last Updated: Jan 12, 2022

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