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NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser) AND Osteogenesis imperfecta

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 8, 2023
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:
RCV003117728.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)]

NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)

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.1732G>A (p.Gly578Ser)
HGVS:
  • NC_000017.11:g.50193978C>T
  • NG_007400.1:g.12662G>A
  • NM_000088.4:c.1732G>AMANE SELECT
  • NP_000079.2:p.Gly578Ser
  • LRG_1t1:c.1732G>A
  • LRG_1:g.12662G>A
  • NC_000017.10:g.48271339C>T
  • NM_000088.3:c.1732G>A
Protein change:
G578S
Links:
dbSNP: rs1907330109
NCBI 1000 Genomes Browser:
rs1907330109
Molecular consequence:
  • NM_000088.4:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Osteogenesis imperfecta (OI)
Identifiers:
MONDO: MONDO:0019019; MeSH: D010013; MedGen: C0029434; OMIM: PS166200

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003800621Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Jan 8, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003800621.2

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

Description

Variant summary: COL1A1 c.1732G>A (p.Gly578Ser) results in a non-conservative amino acid change in a critical amino acid in the encoded protein sequence. Alterations of glycine residues within/near the collagen triple-helix in COL1A1 are common mechanisms of disease. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251380 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1732G>A in individuals affected with Osteogenesis Imperfecta and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Sep 29, 2024