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NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) AND Osteogenesis imperfecta

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 13, 2020
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:
RCV000722158.4

Allele description [Variation Report for NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)]

NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)

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.1678G>A (p.Gly560Ser)
HGVS:
  • NC_000017.11:g.50194032C>T
  • NG_007400.1:g.12608G>A
  • NM_000088.4:c.1678G>AMANE SELECT
  • NP_000079.2:p.Gly560Ser
  • NP_000079.2:p.Gly560Ser
  • LRG_1t1:c.1678G>A
  • LRG_1:g.12608G>A
  • LRG_1p1:p.Gly560Ser
  • NC_000017.10:g.48271393C>T
  • NM_000088.3:c.1678G>A
  • NM_000088.4:c.1678G>A
Protein change:
G560S
Links:
dbSNP: rs67507747
NCBI 1000 Genomes Browser:
rs67507747
Molecular consequence:
  • NM_000088.4:c.1678G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854595Baylor Genetics
no assertion criteria provided
Pathogenic
(Nov 18, 2018) 		germlineclinical testing

SCV002565130Genome Diagnostics Laboratory, The Hospital for Sick Children
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 13, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV000854595.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002565130.1

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

Last Updated: Oct 8, 2024