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NM_000088.4(COL1A1):c.1001del (p.Pro334fs) 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:
RCV000991249.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.1001del (p.Pro334fs)]

NM_000088.4(COL1A1):c.1001del (p.Pro334fs)

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.1001del (p.Pro334fs)
HGVS:
  • NC_000017.11:g.50196160del
  • NG_007400.1:g.10484del
  • NM_000088.4:c.1001delMANE SELECT
  • NP_000079.2:p.Pro334fs
  • LRG_1:g.10484del
  • NC_000017.10:g.48273521del
  • NM_000088.3:c.1001delC
Protein change:
P334fs
Links:
dbSNP: rs150572711
NCBI 1000 Genomes Browser:
rs150572711
Molecular consequence:
  • NM_000088.4:c.1001del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000994664Genetics Department, Polish Mother's Memorial Hospital Research Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 11, 2019) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European, Polishinheritedyes1not providednot providednot providednot providedresearch

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, SCV000994664.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European, Polish1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 25, 2023