Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 29, 2021)
Last evaluated:
Apr 7, 2021
Accession:
VCV000308931.6
Variation ID:
308931
Description:
single nucleotide variant
Help

NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)

Allele ID
325021
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47994437 (GRCh38) GRCh38 UCSC
12: 48388220 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48388220G>A
NC_000012.12:g.47994437G>A
NG_008072.1:g.15066C>T
... more HGVS
Protein change
P268L, P199L
Other names
-
Canonical SPDI
NC_000012.12:47994436:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
The Genome Aggregation Database (gnomAD), exomes 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00024
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00009
The Genome Aggregation Database (gnomAD) 0.00019
Links
ClinGen: CA6535779
dbSNP: rs142770543
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 7, 2021 RCV000976095.4
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000296689.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000351659.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000763850.1
Help
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
1175 1186

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000379053.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Type II Collagenopathies
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000379052.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Apr 07, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000564898.4
Submitted: (Sep 29, 2021)
Evidence details
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
Legg-Calve-Perthes disease
Platyspondylic dysplasia, Torrance type
Kniest dysplasia
Spondyloepiphyseal dysplasia congenita
Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II
Spondyloperipheral dysplasia-short ulna syndrome
Namaqualand hip dysplasia
Avascular necrosis of femoral head, primary, 1
Czech dysplasia, metatarsal type
Stickler syndrome, type I, nonsyndromic ocular
Spondyloepiphyseal dysplasia, stanescu type
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894780.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Likely benign
(Aug 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001123990.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs142770543...

Help
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 Dec 04, 2021