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NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter) AND Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 24, 2023
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:
RCV003531012.1

Allele description [Variation Report for NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter)]

NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter)

Genes:
FKBP14:FKBP prolyl isomerase 14 [Gene - OMIM - HGNC]
FKBP14-AS1:FKBP14 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter)
HGVS:
  • NC_000007.14:g.30022750C>T
  • NG_032173.1:g.9052G>A
  • NM_017946.4:c.264G>AMANE SELECT
  • NP_060416.1:p.Trp88Ter
  • NP_060416.1:p.Trp88Ter
  • LRG_454t1:c.264G>A
  • LRG_454:g.9052G>A
  • LRG_454p1:p.Trp88Ter
  • NC_000007.13:g.30062366C>T
  • NM_017946.3:c.264G>A
  • NR_046478.2:n.458G>A
Protein change:
W88*
Molecular consequence:
  • NR_046478.2:n.458G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_017946.4:c.264G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Synonyms:
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Identifiers:
MONDO: MONDO:0013800; MedGen: C3281160; Orphanet: 300179; OMIM: 614557

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004300809Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 24, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, et al.

Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19.

PubMed [citation]
PMID:
22265013
PMCID:
PMC3276673

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004300809.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Trp88*) in the FKBP14 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKBP14 are known to be pathogenic (PMID: 22265013). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FKBP14-related conditions.

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

Last Updated: May 12, 2024