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NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 16, 2021)
Last evaluated:
Jul 16, 2021
Accession:
VCV001199413.1
Variation ID:
1199413
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)

Allele ID
1189418
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47980968 (GRCh38) GRCh38 UCSC
12: 48374751 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48374751C>T
NC_000012.12:g.47980968C>T
NM_001844.5:c.2464G>A MANE Select NP_001835.3:p.Gly822Ser missense
... more HGVS
Protein change
G753S, G822S
Other names
-
Canonical SPDI
NC_000012.12:47980967:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 16, 2021 RCV001564047.1
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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
Likely pathogenic
(Jul 16, 2021)
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: SCV001787142.1
Submitted: (Aug 16, 2021)
Comment:
ACMG codes: PS2; PM2; PP3
Number of individuals with the variant: 1
Clinical Features:
Birth length less than 3rd percentile (yes) , Macrocephaly at birth (yes) , Abnormality of the face (yes) , Abnormality of limbs (yes) , Abnormal … (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.

Record last updated Aug 19, 2021