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NM_001844.5(COL2A1):c.491del (p.Pro164fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 19, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000689620.5
Variation ID:
689620
Description:
1bp deletion
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NM_001844.5(COL2A1):c.491del (p.Pro164fs)

Allele ID
677295
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47997646 (GRCh38) GRCh38 UCSC
12: 48391429 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48391434del
NC_000012.12:g.47997651del
NG_008072.1:g.11857del
... more HGVS
Protein change
P164fs, P95fs
Other names
-
Canonical SPDI
NC_000012.12:47997645:GGGGGG:GGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1592235241
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 24, 2019 RCV000850370.1
Pathogenic 2 criteria provided, single submitter Oct 14, 2020 RCV001056922.3

Clinical features observed in individuals with this variant

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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
(Apr 24, 2019)
criteria provided, single submitter
Method: research
Stickler syndrome type 1
Affected status: yes
Allele origin: de novo
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: CSER-SouthSeq
Accession: SCV000992554.2
Submitted: (Mar 09, 2020)
Comment:
ACMG codes: PVS1,PS2, PM2
Number of individuals with the variant: 1
Clinical Features:
Hearing impairment (yes) , Micrognathia (yes) , Cleft palate (yes) , Abnormality of the face (yes) , Retrognathia (yes) , Retinopathy of prematurity (yes)
Pathogenic
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001221388.2
Submitted: (Jan 07, 2021)
Publications:
PubMed (1)
PubMed: 20179744
Comment:
This sequence change creates a premature translational stop signal (p.Pro164Leufs*35) in the COL2A1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Feb 24, 2020)
no assertion criteria provided
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002017451.1
Submitted: (Nov 19, 2021)

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 caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Hoornaert KP European journal of human genetics : EJHG 2010 PMID: 20179744

Text-mined citations for rs1592235241...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 28, 2021