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NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 14, 2018
Accession:
VCV000035957.2
Variation ID:
35957
Description:
single nucleotide variant
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NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser)

Allele ID
44621
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.3
Genomic location
7: 94409367 (GRCh38) GRCh38 UCSC
7: 94038679 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.94038679G>A
NC_000007.14:g.94409367G>A
NM_000089.3:c.838G>A NP_000080.2:p.Gly280Ser missense
... more HGVS
Protein change
G280S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs72656387
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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 Aug 18, 2011 RCV000029613.1
Pathogenic 1 criteria provided, single submitter Nov 17, 2014 RCV000517418.1
Pathogenic 1 criteria provided, single submitter Nov 14, 2018 RCV000631528.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL1A2 No evidence available No evidence available GRCh38
GRCh37
536 554

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathogenic
(Aug 18, 2011)
criteria provided, single submitter
Method: curation, clinical testing
Osteogenesis Imperfecta
(autosomal dominant)
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000052265.1
Submitted: (Aug 18, 2011)
Evidence details
Publications
PubMed (2)
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Nov 17, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612924.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (3)
Pathogenic
(Nov 14, 2018)
criteria provided, single submitter
Method: clinical testing
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, type 1
Allele origin: germline
Invitae
Accession: SCV000752610.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change replaces glycine with serine at codon 280 of the COL1A2 protein (p.Gly280Ser). The glycine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. Bardai G Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2017 PMID: 28378289
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Lindahl K European journal of human genetics : EJHG 2015 PMID: 26177859
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. Zhang ZL Journal of bone and mineral metabolism 2012 PMID: 21667357
Collagen structure and stability. Shoulders MD Annual review of biochemistry 2009 PMID: 19344236
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. Roschger P Calcified tissue international 2008 PMID: 18311573
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Marini JC Human mutation 2007 PMID: 17078022
The human type I collagen mutation database. Dalgleish R Nucleic acids research 1997 PMID: 9016532
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. Bella J Science (New York, N.Y.) 1994 PMID: 7695699
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. Long CG Biochemistry 1993 PMID: 8218237

Record last updated Oct 11, 2019