NM_000088.4(COL1A1):c.*245del AND Osteogenesis Imperfecta, Dominant

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000382315.5

Allele description [Variation Report for NM_000088.4(COL1A1):c.*245del]

NM_000088.4(COL1A1):c.*245del

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.*245del

HGVS:

NC_000017.11:g.50185257del
NG_007400.1:g.21383del
NM_000088.4:c.*245delMANE SELECT
LRG_1:g.21383del
NC_000017.10:g.48262618del
NM_000088.3:c.*245delG

Links:

dbSNP: rs886053156

NCBI 1000 Genomes Browser:

rs886053156

Molecular consequence:

NM_000088.4:c.*245del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Osteogenesis Imperfecta, Dominant
Identifiers:: MedGen: CN239427

Recent activity

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DNA helicase loader [Acinetobacter phage 133]
DNA helicase loader [Acinetobacter phage 133]
gi|326536381|ref|YP_004300822.1|

Protein
SAMN15184408 (1)
SRA
PREDICTED: Spodoptera litura elongin-C (LOC111350932), mRNA
PREDICTED: Spodoptera litura elongin-C (LOC111350932), mRNA
gi|1274107583|ref|XM_022962656.1|

Nucleotide
Botrydium granulatum voucher N-622 18S ribosomal RNA (ssu) gene, partial sequenc...
Botrydium granulatum voucher N-622 18S ribosomal RNA (ssu) gene, partial sequence
gi|354779670|gb|HQ710587.1|

Nucleotide
Bellerochea malleus strain NB04-B6 photosystem I P700 apoprotein A2 (psaB) gene,...
Bellerochea malleus strain NB04-B6 photosystem I P700 apoprotein A2 (psaB) gene, partial cds; plastid
gi|732550353|gb|KM010178.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000404067	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000404067

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000404067.2

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

Last Updated: Sep 1, 2024

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