NM_000088.4(COL1A1):c.1379del (p.Pro460fs) AND Osteogenesis imperfecta type I

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:: RCV000490698.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.1379del (p.Pro460fs)]

NM_000088.4(COL1A1):c.1379del (p.Pro460fs)

Gene:

COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_000088.4(COL1A1):c.1379del (p.Pro460fs)

HGVS:

NC_000017.11:g.50194807del
NG_007400.1:g.11837del
NM_000088.4:c.1379delMANE SELECT
NP_000079.2:p.Pro460fs
LRG_1t1:c.1379del
LRG_1:g.11837del
LRG_1p1:p.Pro460fs
NC_000017.10:g.48272168del
NM_000088.3:c.1379delC

Protein change:

P460fs

Links:

dbSNP: rs1114167377

NCBI 1000 Genomes Browser:

rs1114167377

Molecular consequence:

NM_000088.4:c.1379del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Osteogenesis imperfecta type I (OI1)
Synonyms:: OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200

Recent activity

Clear Turn Off Turn On

uncharacterized protein YKR015C [Saccharomyces cerevisiae S288C]
uncharacterized protein YKR015C [Saccharomyces cerevisiae S288C]
gi|398364929|ref|NP_012940.3|

Protein

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
SCV000574573	Department of Medical Sciences, Uppsala University See additional submitters Department of Dental Medicine, Karolinska Institutet	no assertion criteria provided	Pathogenic	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000574573

Department of Medical Sciences, Uppsala University

See additional submitters

no assertion criteria provided

Pathogenic

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	2	not provided	not provided	2	not provided	clinical testing

Citations

PubMed

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A.

Eur J Hum Genet. 2015 Aug;23(8):1042-50. doi: 10.1038/ejhg.2015.81. Epub 2015 May 6. Erratum in: Eur J Hum Genet. 2015 Aug;23(8):1112. doi: 10.1038/ejhg.2015.129.

PubMed [citation]

PMID:: 25944380
PMCID:: PMC4795106

Details of each submission

From Department of Medical Sciences, Uppsala University, SCV000574573.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Feb 13, 2023

ClinVar

Relating variation to medicine