Is FKBP14 p.Ser61fs (c.181del) pathogenic?

FKBP14 p.Ser61fs (c.181del) is classified Pathogenic in FKBP14 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-05-21). Associated with Cardiovascular phenotype.

What condition is associated with FKBP14 p.Ser61fs (c.181del)?

FKBP14 p.Ser61fs (c.181del) is associated with Cardiovascular phenotype (ClinVar).

FKBP14 p.Ser61fs

c.181del · VCV4025182

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 1 of 4
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.8	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: FKBP14
Protein: p.Ser61fs
Coding: c.181del
MANE Select: NM_017946
Type: Deletion
Location: chr7:30026328 (GRCh38)
Gene constraint: LOEUF 1.342 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 88.27 · 2 PDB
Residue 61: a disulfide bond; the ppiase fkbp-type domain

Full FKBP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FKBP14 p.Ser61Phe Uncertain significance ★ same residue
FKBP14 c.198-3T>C Uncertain significance ★★ same condition
FKBP14 p.Arg2Ser Uncertain significance ★★ ⚠ same condition
FKBP14 p.Asp181Glu Uncertain significance ★★ ⚠ same condition
FKBP14 p.Gly197Arg Uncertain significance ★★ ⚠ same condition
FKBP14 p.Gly60Asp Uncertain significance ★★ ⚠ same condition
FKBP14 p.His179Gln Uncertain significance ★★ ⚠ same condition
FKBP14 p.His69Arg Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/fkbp14-p-ser61fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown