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NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND FKBP14-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 2024
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:
RCV004757185.1

Allele description [Variation Report for NM_017946.4(FKBP14):c.362dup (p.Glu122fs)]

NM_017946.4(FKBP14):c.362dup (p.Glu122fs)

Genes:
FKBP14:FKBP prolyl isomerase 14 [Gene - OMIM - HGNC]
FKBP14-AS1:FKBP14 antisense RNA 1 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
Other names:
p.Glu122fs
HGVS:
  • NC_000007.14:g.30019115dup
  • NG_032173.1:g.12691dup
  • NM_017946.4:c.362dupMANE SELECT
  • NP_060416.1:p.Glu122fs
  • LRG_454t1:c.362dup
  • LRG_454:g.12691dup
  • NC_000007.13:g.30058726_30058727insG
  • NC_000007.13:g.30058731dup
  • NM_017946.2:c.362dupC
  • NM_017946.3:c.362dupC
  • NR_046478.2:n.648dup
  • NR_046479.2:n.404dup
  • p.Glu122Argfs*7
Protein change:
E122fs
Links:
OMIM: 614505.0001; dbSNP: rs542489955
NCBI 1000 Genomes Browser:
rs542489955
Molecular consequence:
  • NM_017946.4:c.362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_046478.2:n.648dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046479.2:n.404dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
FKBP14-related disorder
Synonyms:
FKBP14-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005352335PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Apr 18, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005352335.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The FKBP14 c.362dupC variant is predicted to result in a frameshift and premature protein termination (p.Glu122Argfs*7). This variant has been reported in the homozygous state within individuals presenting with kyphoscoliotic Ehlers-Danlos syndrome (Giunta et al. 2018. PubMed ID: 28617417; Baumawnn et al. 2012. PubMed ID: 22265013; Bursztejn et al. 2017. PubMed ID: 27905128). This variant is reported in 0.11% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in FKBP14 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 24, 2024