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NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Jan 14, 2020
Accession:
VCV000430186.4
Variation ID:
430186
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)

Allele ID
421923
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47995763 (GRCh38) GRCh38 UCSC
12: 48389546 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48389546C>T
NC_000012.12:g.47995763C>T
NG_008072.1:g.13740G>A
... more HGVS
Protein change
G219R, G150R
Other names
-
Canonical SPDI
NC_000012.12:47995762:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA384523805
dbSNP: rs1131691822
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 Jan 14, 2020 RCV000494511.2
Pathogenic 1 criteria provided, single submitter Aug 6, 2018 RCV001089571.1
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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
(Aug 06, 2018)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: yes
Allele origin: unknown
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
Accession: SCV001244776.1
Submitted: (Aug 15, 2019)
Comment:
A heterozygous missense variant, NM_001844.4(COL2A1):c.655G>A, has been identified in exon 10 of 54 of the COL2A1 gene. The variant is predicted to result in a … (more)
Pathogenic
(Jan 14, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000582924.5
Submitted: (Sep 23, 2021)
Comment:
Occurs in the triple helical domain and replaces the glycine in the canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to … (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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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 rs1131691822...

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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