NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 31, 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:: RCV000763409.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)]

NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)

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.2089C>T (p.Arg697Ter)

HGVS:

NC_000017.11:g.50191826G>A
NG_007400.1:g.14814C>T
NM_000088.4:c.2089C>TMANE SELECT
NP_000079.2:p.Arg697Ter
NP_000079.2:p.Arg697Ter
LRG_1t1:c.2089C>T
LRG_1:g.14814C>T
LRG_1p1:p.Arg697Ter
NC_000017.10:g.48269187G>A
NM_000088.3:c.2089C>T

Protein change:

R697*

Links:

dbSNP: rs72651642

NCBI 1000 Genomes Browser:

rs72651642

Molecular consequence:

NM_000088.4:c.2089C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Osteogenesis imperfecta with normal sclerae, dominant form (OI4)
Synonyms:: Osteogenesis imperfecta type 4; OI type 4; Osteogenesis imperfecta with normal sclerae; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008148; MedGen: C0268363; Orphanet: 666; OMIM: 166220

Name:: Postmenopausal osteoporosis
Synonyms:: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS; OSTEOPOROSIS, INVOLUTIONAL
Identifiers:: MONDO: MONDO:0008159; MedGen: C0029458

Name:: Osteogenesis imperfecta, perinatal lethal (OI2)
Synonyms:: OI, TYPE II; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008147; MedGen: C0268358; OMIM: 166210

Name:: Osteogenesis imperfecta type III (OI3)
Synonyms:: Osteogenesis imperfecta type 3; OI type 3; Osteogenesis imperfecta, progressively deforming with normal sclerae; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009804; MedGen: C0268362; Orphanet: 666; OMIM: 259420

Name:: Infantile cortical hyperostosis
Synonyms:: Hyperostosis, Cortical, Congenital; P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE; Caffey Disease
Identifiers:: MONDO: MONDO:0007244; MedGen: C0020497; Orphanet: 1310; OMIM: 114000

Name:: Ehlers-Danlos syndrome, arthrochalasia type
Synonyms:: EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; Arthrochalasis multiplex congenita; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007525; MedGen: C4551623; Orphanet: 1899; Orphanet: 99875; Orphanet: 99876; OMIM: 130060

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

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Defb26 AND (alive[prop]) (3)
Gene
p21-activated kinase CePAK [Caenorhabditis elegans]
p21-activated kinase CePAK [Caenorhabditis elegans]
gi|1518844|gb|AAC47308.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000894138	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 31, 2018)	unknown	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

SCV000894138

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 31, 2018)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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

PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000894138.1

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

Last Updated: Oct 20, 2024

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