NM_000088.4(COL1A1):c.1049G>T (p.Gly350Val) AND Osteogenesis imperfecta type III

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 20, 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:: RCV004548626.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.1049G>T (p.Gly350Val)]

NM_000088.4(COL1A1):c.1049G>T (p.Gly350Val)

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.1049G>T (p.Gly350Val)

HGVS:

NC_000017.11:g.50195930C>A
NG_007400.1:g.10710G>T
NM_000088.4:c.1049G>TMANE SELECT
NP_000079.2:p.Gly350Val
NP_000079.2:p.Gly350Val
LRG_1t1:c.1049G>T
LRG_1:g.10710G>T
LRG_1p1:p.Gly350Val
NC_000017.10:g.48273291C>A
NM_000088.3:c.1049G>T

Protein change:

G350V

Molecular consequence:

NM_000088.4:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Osteogenesis imperfecta type III (OI3)
Synonyms:: Osteogenesis imperfecta type 3; OI type 3; Osteogenesis imperfecta, progressively deforming with normal sclerae; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009804; MedGen: C0268362; Orphanet: 666; OMIM: 259420

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004101795	Rare Disease Genomics Lab, Stellenbosch Faculty of Medicine	no assertion criteria provided	Likely pathogenic (Jun 20, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004101795

Rare Disease Genomics Lab, Stellenbosch Faculty of Medicine

no assertion criteria provided

Likely pathogenic
(Jun 20, 2023)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Rare Disease Genomics Lab, Stellenbosch Faculty of Medicine, SCV004101795.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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