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

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 1, 1995
Accession:
VCV000017373.1
Variation ID:
17373
Description:
1bp deletion
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NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)

Allele ID
32412
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47974771 (GRCh38) GRCh38 UCSC
12: 48368554 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48368557del
NC_000012.12:g.47974774del
NG_008072.1:g.34732del
... more HGVS
Protein change
N1258fs, N1327fs
Other names
-
Canonical SPDI
NC_000012.12:47974770:GGGG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 120140.0023
VarSome
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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, 1995 RCV000018916.28
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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, 1995)
no assertion criteria provided
Method: literature only
STICKLER SYNDROME, TYPE I
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000039201.2
Submitted: (Dec 30, 2010)
Publications:
PubMed (1)
PubMed: 7487609
Comment on evidence:
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 … (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
Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Ahmad NN Archives of ophthalmology (Chicago, Ill. : 1960) 1995 PMID: 7487609

Record last updated Jan 12, 2022