NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser) AND Osteogenesis imperfecta type III

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 13, 2021
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:: RCV001788353.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)]

NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)

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.1273G>A (p.Gly425Ser)

HGVS:

NC_000017.11:g.50195258C>T
NG_007400.1:g.11382G>A
NM_000088.4:c.1273G>AMANE SELECT
NP_000079.2:p.Gly425Ser
NP_000079.2:p.Gly425Ser
LRG_1t1:c.1273G>A
LRG_1:g.11382G>A
LRG_1p1:p.Gly425Ser
NC_000017.10:g.48272619C>T
NM_000088.3:c.1273G>A

Protein change:

G425S

Links:

dbSNP: rs72648330

NCBI 1000 Genomes Browser:

rs72648330

Molecular consequence:

NM_000088.4:c.1273G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001712165	Pediatric Genetics Clinic, Sheba Medical Center	no assertion criteria provided	Pathogenic (May 13, 2021)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001712165

Pediatric Genetics Clinic, Sheba Medical Center

no assertion criteria provided

Pathogenic
(May 13, 2021)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Pediatric Genetics Clinic, Sheba Medical Center, SCV001712165.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine