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NM_021939.4(FKBP10):c.1014C>T (p.Arg338=) AND Osteogenesis imperfecta type 11

Germline classification:
Benign (1 submission)
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:
RCV000844873.1

Allele description [Variation Report for NM_021939.4(FKBP10):c.1014C>T (p.Arg338=)]

NM_021939.4(FKBP10):c.1014C>T (p.Arg338=)

Gene:
FKBP10:FKBP prolyl isomerase 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_021939.4(FKBP10):c.1014C>T (p.Arg338=)
HGVS:
  • NC_000017.11:g.41819626C>T
  • NG_015860.1:g.11917C>T
  • NM_021939.4:c.1014C>TMANE SELECT
  • NP_068758.3:p.Arg338=
  • LRG_12t1:c.1014C>T
  • LRG_12:g.11917C>T
  • NC_000017.10:g.39975878C>T
  • NC_000017.10:g.39975878C>T
  • NM_021939.3:c.1014C>T
Links:
dbSNP: rs143903650
NCBI 1000 Genomes Browser:
rs143903650
Molecular consequence:
  • NM_021939.4:c.1014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Osteogenesis imperfecta type 11
Synonyms:
OI, TYPE XI; Osteogenesis imperfecta, type XI
Identifiers:
MONDO: MONDO:0012592; MedGen: C3151218; Orphanet: 666; OMIM: 610968

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986681Medical Molecular Genetics Department, National Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benignunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown11not providednot providednot providedclinical 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

Details of each submission

From Medical Molecular Genetics Department, National Research Center, SCV000986681.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not provided1not provided

Last Updated: Oct 13, 2024