U.S. flag

An official website of the United States government

NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg) 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:
RCV000490746.1

Allele description [Variation Report for NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)]

NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)

Gene:
COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)
HGVS:
  • NC_000007.14:g.94427008G>C
  • NG_007405.1:g.37448G>C
  • NM_000089.4:c.3106G>CMANE SELECT
  • NP_000080.2:p.Gly1036Arg
  • NP_000080.2:p.Gly1036Arg
  • LRG_2t1:c.3106G>C
  • LRG_2:g.37448G>C
  • LRG_2p1:p.Gly1036Arg
  • NC_000007.13:g.94056320G>C
  • NM_000089.3:c.3106G>C
Protein change:
G1036R
Links:
dbSNP: rs72659325
NCBI 1000 Genomes Browser:
rs72659325
Molecular consequence:
  • NM_000089.4:c.3106G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574660Department of Medical Sciences, Uppsala University

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedclinical 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, SCV000574660.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2023