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NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) AND COL1A1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 30, 2023
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:
RCV004553128.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)]

NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)

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.2362G>A (p.Gly788Ser)
HGVS:
  • NC_000017.11:g.50190578C>T
  • NG_007400.1:g.16062G>A
  • NM_000088.4:c.2362G>AMANE SELECT
  • NP_000079.2:p.Gly788Ser
  • NP_000079.2:p.Gly788Ser
  • LRG_1t1:c.2362G>A
  • LRG_1:g.16062G>A
  • LRG_1p1:p.Gly788Ser
  • NC_000017.10:g.48267939C>T
  • NM_000088.3:c.2362G>A
  • p.GLY788SER
Protein change:
G788S
Links:
dbSNP: rs67879854
NCBI 1000 Genomes Browser:
rs67879854
Molecular consequence:
  • NM_000088.4:c.2362G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL1A1-related disorder
Synonyms:
COL1A1-related disease; COL1A1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004121276PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Oct 30, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004121276.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The COL1A1 c.2362G>A variant is predicted to result in the amino acid substitution p.Gly788Ser. The p.Gly788 amino acid is located in the conserved Gly-Xaa-Yaa triple helical domain where substitutions of a glycine are usually pathogenic (Marini et al. 2007. PubMed ID: 17078022).  In addition, this variant was reported in multiple individuals with osteogenesis imperfecta (see examples: Table S1, Bardai et al. 2016. PubMed ID: 27509835; Table 1, Chandler et al. 2018. PubMed ID: 29595812; Table 1, Zhytnik et al. 2020. PubMed ID: 32166892; Table 1, Zhang et al. 2021. PubMed ID: 33942288). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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

Last Updated: Nov 10, 2024