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NM_001844.5(COL2A1):c.2594del (p.Pro865fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 16, 2021)
Last evaluated:
Aug 9, 2021
Accession:
VCV001199416.1
Variation ID:
1199416
Description:
1bp deletion
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NM_001844.5(COL2A1):c.2594del (p.Pro865fs)

Allele ID
1189417
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47980585 (GRCh38) GRCh38 UCSC
12: 48374368 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001844.5:c.2594delC MANE Select
NC_000012.11:g.48374369del
NC_000012.12:g.47980586del
... more HGVS
Protein change
P796fs, P865fs
Other names
-
Canonical SPDI
NC_000012.12:47980584:GG:G
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 Aug 9, 2021 RCV001564051.1
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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
(Aug 09, 2021)
criteria provided, single submitter
Method: research
Stickler syndrome type 1
Affected status: yes
Allele origin: maternal
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: CSER-SouthSeq
Accession: SCV001787146.1
Submitted: (Aug 16, 2021)
Comment:
ACMG codes: PVS1; PM2
Number of individuals with the variant: 1
Clinical Features:
Polyhydramnios (yes) , Optic atrophy (yes) , Hearing impairment (yes) , Micrognathia (yes) , Cleft palate (yes) , Abnormality of the face (yes) , Gastroesophageal … (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 Nov 27, 2021