NM_000088.4(COL1A1):c.1452del (p.Gly485fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 26, 2018
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:: RCV000733766.4

Allele description [Variation Report for NM_000088.4(COL1A1):c.1452del (p.Gly485fs)]

NM_000088.4(COL1A1):c.1452del (p.Gly485fs)

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.1452del (p.Gly485fs)

HGVS:

NC_000017.11:g.50194730del
NG_007400.1:g.11910del
NM_000088.4:c.1452delMANE SELECT
NP_000079.2:p.Gly485fs
LRG_1:g.11910del
NC_000017.10:g.48272091del

Protein change:

G485fs

Links:

dbSNP: rs72648346

NCBI 1000 Genomes Browser:

rs72648346

Molecular consequence:

NM_000088.4:c.1452del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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MY9_0712 AND (alive[prop]) (0)
Gene
MY9_3359 AND (alive[prop]) (0)
Gene
glycosyltransferase family 4 protein [Thermosulfuriphilus ammonigenes]
glycosyltransferase family 4 protein [Thermosulfuriphilus ammonigenes]
gi|1820438568|gnl|PRJNA606893|G4V39 0|gb|QIJ72363.1|

Protein
unnamed protein product (chloroplast) [Oenothera elata subsp. hookeri]
unnamed protein product (chloroplast) [Oenothera elata subsp. hookeri]
gi|11920|emb|CAA27251.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000861863	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Pathogenic (Jun 26, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000861863

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Pathogenic
(Jun 26, 2018)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

Ward LM, Lalic L, Roughley PJ, Glorieux FH.

Hum Mutat. 2001 May;17(5):434.

PubMed [citation]

PMID:: 11317364

Details of each submission

From Eurofins Ntd Llc (ga), SCV000861863.1

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

Last Updated: Sep 29, 2024

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