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NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 20, 2017)
Last evaluated:
Nov 1, 2016
Accession:
VCV000547261.1
Variation ID:
547261
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala)

Allele ID
537883
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47975568 (GRCh38) GRCh38 UCSC
12: 48369351 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48369351C>G
NC_000012.12:g.47975568C>G
NG_008072.1:g.33935G>C
... more HGVS
Protein change
G1212A, G1143A
Other names
-
Canonical SPDI
NC_000012.12:47975567:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555164786
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 1, 2016 RCV000659404.1
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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
Uncertain significance
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: yes
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781215.1
Submitted: (Dec 20, 2017)

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 rs1555164786...

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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