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NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 23, 2021)
Last evaluated:
Jun 4, 2021
Accession:
VCV001213981.1
Variation ID:
1213981
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)

Allele ID
1203974
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47974853 (GRCh38) GRCh38 UCSC
12: 48368636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48368636C>T
NC_000012.12:g.47974853C>T
NG_008072.1:g.34650G>A
... more HGVS
Protein change
W1230*, W1299*
Other names
-
Canonical SPDI
NC_000012.12:47974852: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
Pathogenic 1 criteria provided, single submitter Jun 4, 2021 RCV001591924.1
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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
(Jun 04, 2021)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: yes
Allele origin: germline
DBGen Ocular Genomics
Accession: SCV001816086.1
Submitted: (Jul 23, 2021)
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: unspecified
Geographic origin: Spain

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 Nov 06, 2021