NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) AND Osteogenesis imperfecta with normal sclerae, dominant form

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000490669.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)]

NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)

Gene:

COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)

HGVS:

NC_000017.11:g.50191826G>A
NG_007400.1:g.14814C>T
NM_000088.4:c.2089C>TMANE SELECT
NP_000079.2:p.Arg697Ter
NP_000079.2:p.Arg697Ter
LRG_1t1:c.2089C>T
LRG_1:g.14814C>T
LRG_1p1:p.Arg697Ter
NC_000017.10:g.48269187G>A
NM_000088.3:c.2089C>T

Protein change:

R697*

Links:

dbSNP: rs72651642

NCBI 1000 Genomes Browser:

rs72651642

Molecular consequence:

NM_000088.4:c.2089C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Osteogenesis imperfecta with normal sclerae, dominant form (OI4)
Synonyms:: OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE; Osteogenesis imperfecta type 4; OI type 4; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008148; MedGen: C0268363; Orphanet: 666; OMIM: 166220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000574598	Department of Medical Sciences, Uppsala University See additional submitters Department of Dental Medicine, Karolinska Institutet	no assertion criteria provided	Pathogenic	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000574598

Department of Medical Sciences, Uppsala University

See additional submitters

no assertion criteria provided

Pathogenic

paternal

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A.

Eur J Hum Genet. 2015 Aug;23(8):1042-50. doi: 10.1038/ejhg.2015.81. Epub 2015 May 6. Erratum in: Eur J Hum Genet. 2015 Aug;23(8):1112. doi: 10.1038/ejhg.2015.129..

PubMed [citation]

PMID:: 25944380
PMCID:: PMC4795106

Details of each submission

From Department of Medical Sciences, Uppsala University, SCV000574598.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 20, 2025

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