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NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val) AND Osteogenesis imperfecta, perinatal lethal

Germline classification:
Pathogenic (1 submission)
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:
RCV001003413.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val)]

NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val)

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.1922G>T (p.Gly641Val)
HGVS:
  • NC_000017.11:g.50192647C>A
  • NG_007400.1:g.13993G>T
  • NM_000088.4:c.1922G>TMANE SELECT
  • NP_000079.2:p.Gly641Val
  • LRG_1t1:c.1922G>T
  • LRG_1:g.13993G>T
  • NC_000017.10:g.48270008C>A
  • NM_000088.3:c.1922G>T
Protein change:
G641V
Links:
dbSNP: rs1598293646
NCBI 1000 Genomes Browser:
rs1598293646
Molecular consequence:
  • NM_000088.4:c.1922G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Osteogenesis imperfecta, perinatal lethal (OI2)
Synonyms:
OI, TYPE II; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008147; MedGen: C0268358; OMIM: 166210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161449Institute of Human Genetics, Cologne University
no assertion criteria provided
Pathogenicgermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV001161449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024