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NM_000088.3(COL1A1):c.2291G>T (p.Gly764Val) AND Osteogenesis imperfecta, recessive perinatal lethal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1997
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:
RCV000018879.23

Allele description

NM_000088.3(COL1A1):c.2291G>T (p.Gly764Val)

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_000088.3(COL1A1):c.2291G>T (p.Gly764Val)
HGVS:
  • NC_000017.11:g.50190869C>A
  • NG_007400.1:g.15771G>T
  • NM_000088.3:c.2291G>T
  • NP_000079.2:p.Gly764Val
  • LRG_1t1:c.2291G>T
  • LRG_1:g.15771G>T
  • LRG_1p1:p.Gly764Val
  • NC_000017.10:g.48268230C>A
Protein change:
G586V; GLY586VAL
Links:
OMIM: 120150.0056; dbSNP: rs72651657
NCBI 1000 Genomes Browser:
rs72651657
Molecular consequence:
  • NM_000088.3:c.2291G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Osteogenesis imperfecta, recessive perinatal lethal (OI2)
Synonyms:
OI, TYPE II; OSTEOGENESIS IMPERFECTA, TYPE II; Osteogenesis Imperfecta Type IIA
Identifiers:
MedGen: C0268360; OMIM: 166210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039163OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1997) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

Forlino A, Zolezzi F, Valli M, Pignatti PF, Cetta G, Brunelli PC, Mottes M.

Hum Mol Genet. 1994 Dec;3(12):2201-6.

PubMed [citation]
PMID:
7881420

(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?

Lund AM, Skovby F, Schwartz M.

Hum Mutat. 1997;9(5):431-6.

PubMed [citation]
PMID:
9143923

Details of each submission

From OMIM, SCV000039163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Forlino et al. (1994) described type III OI in a patient with a G586V substitution in the alpha-2 chain of collagen I (120160.0023). Lund et al. (1997) described the same mutation, a G586V substitution, in the alpha-1 chain in a case of lethal OI type II (166210). They presented this as evidence that, perhaps because there are 2 alpha-1 chains and 1 alpha-2 chain in type I collagen, substitutions in the alpha-1 gene have more serious consequences. They pointed out that identical biochemical alterations in the same chain are known to have different phenotypic effects, both within families and between unrelated patients.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 5, 2016