NM_000088.4(COL1A1):c.1002+5G>T AND Osteogenesis imperfecta

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 6, 2020
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:: RCV001260273.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.1002+5G>T]

NM_000088.4(COL1A1):c.1002+5G>T

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.1002+5G>T

HGVS:

NC_000017.11:g.50196150C>A
NG_007400.1:g.10490G>T
NM_000088.4:c.1002+5G>TMANE SELECT
LRG_1t1:c.1002+5G>T
LRG_1:g.10490G>T
NC_000017.10:g.48273511C>A
NM_000088.3:c.1002+5G>T

Links:

dbSNP: rs1907566530

NCBI 1000 Genomes Browser:

rs1907566530

Molecular consequence:

NM_000088.4:c.1002+5G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Osteogenesis imperfecta (OI)
Identifiers:: MONDO: MONDO:0019019; MeSH: D010013; MedGen: C0029434; OMIM: PS166200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244825	Genetics Department, Polish Mother's Memorial Hospital Research Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 6, 2020)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244825

Genetics Department, Polish Mother's Memorial Hospital Research Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 6, 2020)

de novo

research

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

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Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetics Department, Polish Mother's Memorial Hospital Research Institute, SCV001244825.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Polish	1	not provided	not provided	research	PubMed (1)

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

Last Updated: May 7, 2024

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