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NM_000942.5(PPIB):c.563_566del (p.Asp188fs) AND Osteogenesis imperfecta type 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000034321.30

Allele description [Variation Report for NM_000942.5(PPIB):c.563_566del (p.Asp188fs)]

NM_000942.5(PPIB):c.563_566del (p.Asp188fs)

Genes:
PPIB:peptidylprolyl isomerase B [Gene - OMIM - HGNC]
SNX22:sorting nexin 22 [Gene - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_000942.5(PPIB):c.563_566del (p.Asp188fs)
HGVS:
  • NC_000015.10:g.64156110GTCT[1]
  • NG_012979.1:g.12041ACAG[1]
  • NG_033071.1:g.9394GTCT[1]
  • NM_000942.5:c.563_566delMANE SELECT
  • NM_024798.3:c.*1602GTCT[1]MANE SELECT
  • NP_000933.1:p.Asp188Alafs
  • NP_000933.1:p.Asp188fs
  • LRG_10t1:c.557_560AGAC[1]
  • LRG_10:g.12041ACAG[1]
  • LRG_10p1:p.Asp188Alafs
  • NC_000015.9:g.64448309GTCT[1]
  • NM_000942.4:c.557_560AGAC[1]
  • NM_000942.4:c.563_566del
  • NR_073534.2:n.2276GTCT[1]
Protein change:
D188fs
Links:
OMIM: 123841.0004; dbSNP: rs398122834
NCBI 1000 Genomes Browser:
rs398122834
Molecular consequence:
  • NM_024798.3:c.*1602GTCT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000942.5:c.563_566del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_073534.2:n.2276GTCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Osteogenesis imperfecta type 9 (OI9)
Synonyms:
Oi type IX; OI 9; Osteogenesis imperfecta sillence type II/III without abnormality of type I collagen
Identifiers:
MONDO: MONDO:0009805; MedGen: C1850169; OMIM: 259440

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000058272OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2012) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Barnes AM, Cabral WA, Weis M, Makareeva E, Mertz EL, Leikin S, Eyre D, Trujillo C, Marini JC.

Hum Mutat. 2012 Nov;33(11):1589-98. doi: 10.1002/humu.22139. Epub 2012 Jul 16.

PubMed [citation]
PMID:
22718341
PMCID:
PMC3470738

Details of each submission

From OMIM, SCV000058272.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Palestinian pedigree segregating moderate and lethal forms of recessive OI, Barnes et al. (2012) identified in one pedigree branch a homozygous deletion in the PPIB gene (563_566delACAG) in 2 children with lethal type IX OI (OI9; 259440); in another branch, they identified a homozygous FKBP10 indel mutation (607063.0009) in a child with moderate type XI OI (610968).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024