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NM_001844.5(COL2A1):c.3165+2_3166-84del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 4, 2020)
Last evaluated:
Oct 20, 2020
Accession:
VCV000988096.1
Variation ID:
988096
Description:
88bp deletion
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NM_001844.5(COL2A1):c.3165+2_3166-84del

Allele ID
976030
Variant type
Deletion
Variant length
88 bp
Cytogenetic location
12q13.11
Genomic location
12: 48371294-48371381 (GRCh37) GRCh37 UCSC
12: 47977511-47977598 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48371294_48371381del
NC_000012.12:g.47977511_47977598del
NG_008072.1:g.31905_31992del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1938789358
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 Oct 20, 2020 RCV001269479.1

Clinical features observed in individuals with this variant

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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
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin: de novo
Undiagnosed Diseases Network,NIH
Study: Undiagnosed Diseases Network (NIH), UDN
Accession: SCV001449493.1
Submitted: (Dec 04, 2020)
Number of individuals with the variant: 1
Clinical Features:
Retinal detachment (yes) , Pes valgus (yes) , Myalgia (yes) , Juvenile osteochondrosis of spine (yes) , Low anterior hairline (yes) , Long toe (yes) … (more)
Zygosity: 1 Single Heterozygote
Age: 20-29 years
Sex: female
Ethnicity/Population group: Caucasians
Tissue: blood

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 rs1938789358...

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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