NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter) AND Osteogenesis imperfecta

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 11, 2019
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:: RCV000991257.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter)]

NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter)

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.1843G>T (p.Glu615Ter)

HGVS:

NC_000017.11:g.50192829C>A
NG_007400.1:g.13811G>T
NM_000088.4:c.1843G>TMANE SELECT
NP_000079.2:p.Glu615Ter
NP_000079.2:p.Glu615Ter
LRG_1t1:c.1843G>T
LRG_1:g.13811G>T
LRG_1p1:p.Glu615Ter
NC_000017.10:g.48270190C>A
NM_000088.3:c.1843G>T

Protein change:

E615*

Links:

dbSNP: rs1598293920

NCBI 1000 Genomes Browser:

rs1598293920

Molecular consequence:

NM_000088.4:c.1843G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000994672	Genetics Department, Polish Mother's Memorial Hospital Research Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 11, 2019)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000994672

Genetics Department, Polish Mother's Memorial Hospital Research Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 11, 2019)

unknown

research

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
European, Polish	unknown	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, SCV000994672.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European, 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	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 1, 2022

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