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NM_000088.4(COL1A1):c.1111G>A (p.Gly371Ser) AND Osteogenesis imperfecta type I

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000631492.7

Allele description

NM_000088.4(COL1A1):c.1111G>A (p.Gly371Ser)

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.1111G>A (p.Gly371Ser)
HGVS:
  • NC_000017.11:g.50195611C>T
  • NG_007400.1:g.11029G>A
  • NM_000088.4:c.1111G>AMANE SELECT
  • NP_000079.2:p.Gly371Ser
  • NP_000079.2:p.Gly371Ser
  • LRG_1t1:c.1111G>A
  • LRG_1:g.11029G>A
  • LRG_1p1:p.Gly371Ser
  • NC_000017.10:g.48272972C>T
  • NM_000088.3:c.1111G>A
Protein change:
G371S
Links:
dbSNP: rs72645368
NCBI 1000 Genomes Browser:
rs72645368
Molecular consequence:
  • NM_000088.4:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Osteogenesis imperfecta type I (OI1)
Synonyms:
OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000752574Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 22, 2017) 		germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

Bella J, Eaton M, Brodsky B, Berman HM.

Science. 1994 Oct 7;266(5182):75-81.

PubMed [citation]
PMID:
7695699

Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

Long CG, Braswell E, Zhu D, Apigo J, Baum J, Brodsky B.

Biochemistry. 1993 Nov 2;32(43):11688-95.

PubMed [citation]
PMID:
8218237
See all PubMed Citations (9)

Details of each submission

From Invitae, SCV000752574.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

For these reasons, this variant has been classified as Pathogenic. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL1A1, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 9016532, 17078022) compared to the general population (ExAC). This variant has been reported in several individuals  affected with osteogenesis imperfecta (PMID: 17078022, 21667357, 22589248, 26604951). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 371 of the COL1A1 protein (p.Gly371Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.

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

Last Updated: Jun 23, 2024