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NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 20, 2019)
Last evaluated:
Mar 14, 2018
Accession:
VCV000692014.1
Variation ID:
692014
Description:
2bp duplication
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NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)

Allele ID
679785
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
12q13.11
Genomic location
12: 47978384-47978385 (GRCh38) GRCh38 UCSC
12: 48372167-48372168 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48372168_48372169dup
NC_000012.12:g.47978385_47978386dup
NG_008072.1:g.31117_31118dup
... more HGVS
Protein change
P902fs, P971fs
Other names
-
Canonical SPDI
NC_000012.12:47978384:GG:GGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1592202517
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 Mar 14, 2018 RCV000853283.1
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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
(Mar 14, 2018)
criteria provided, single submitter
Method: clinical testing
STICKLER SYNDROME, TYPE I
Affected status: yes
Allele origin: germline
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV000996117.1
Submitted: (Sep 20, 2019)
Comment:
This frameshifting variant is predicted to generate a premature termination codon and have a loss-of-function effect. This variant has neither been observed in the ExAC … (more)
Number of individuals with the variant: 1

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1592202517...

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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 27, 2021