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COL2A1, 1-BP DEL, EX40

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 1, 1992
Accession:
VCV000017358.1
Variation ID:
17358
Description:
deletion
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COL2A1, 1-BP DEL, EX40

Allele ID
32397
Variant type
Deletion
Variant length
-
Cytogenetic location
12q13.11-q13.2
Genomic location
-
HGVS
-
Protein change
-
Other names
1-BP DEL, EX40
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 120140.0008
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Nov 1, 1992 RCV000018902.28
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL2A1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1212 1223

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Nov 01, 1992)
no assertion criteria provided
Method: literature only
STICKLER SYNDROME, TYPE I
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000039186.2
Submitted: (Dec 30, 2010)
Publications:
PubMed (1)
PubMed: 1444917
Comment on evidence:
In a family with Stickler syndrome (STL1; 108300), Brown et al. (1992) found that 4 affected members had deletion of a single basepair resulting in … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Procollagen II gene mutation in Stickler syndrome. Brown DM Archives of ophthalmology (Chicago, Ill. : 1960) 1992 PMID: 1444917

Record last updated Oct 08, 2021