Is FKBP14 p.Gly117= (c.351T>C) pathogenic?

FKBP14 p.Gly117= (c.351T>C) is classified Likely benign in FKBP14 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-08-24). No allele count reported in gnomAD v4.1 (AN 1,568,386); Associated with Cardiovascular phenotype.

What condition is associated with FKBP14 p.Gly117= (c.351T>C)?

FKBP14 p.Gly117= (c.351T>C) is associated with Cardiovascular phenotype, Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (ClinVar).

How common is FKBP14 p.Gly117= (c.351T>C) in the general population?

FKBP14 p.Gly117= (c.351T>C) is no allele count reported in gnomAD v4.1 (AN 1,568,386) (gnomAD).

FKBP14 p.Gly117=

c.351T>C · rs1789965716 · VCV1970914

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,568,386)

Conditions

Cardiovascular phenotype

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 1.3	GERP 0.1, phastCons 1
Overall
CADD	12.76	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,568,386). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: FKBP14
Protein: p.Gly117=
Coding: c.351T>C
MANE Select: NM_017946
dbSNP: rs1789965716
Type: single nucleotide variant
Location: chr7:30019122 (GRCh38)

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

Also linked: Ehlers-Danlos syndrome, kyphoscoliotic type, 2

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-gly117 (accessed [today's date]).

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