Is TERT p.Pro625fs (c.1871_1872dup) pathogenic?

TERT p.Pro625fs (c.18711872dup) is classified Pathogenic in TERT (ClinVar, Single submitter, 1 submitter; last evaluated 2021-04-09). Absent from gnomAD; Associated with idiopathic pulmonary fibrosis.

What condition is associated with TERT p.Pro625fs (c.1871_1872dup)?

TERT p.Pro625fs (c.1871_1872dup) is associated with idiopathic pulmonary fibrosis, dyskeratosis congenita, autosomal dominant 2 (ClinVar).

How common is TERT p.Pro625fs (c.1871_1872dup) in the general population?

TERT p.Pro625fs (c.1871_1872dup) is absent from gnomAD (gnomAD).

How is Idiopathic pulmonary fibrosis inherited?

Typically Multigenic/multifactorial (Orphanet). A genetic counselor can assess individual risk for a family.

TERT p.Pro625fs

c.1871_1872dup · rs2126644399 · VCV1434641

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

idiopathic pulmonary fibrosis

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 4 of 16
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.2, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: TERT
Protein: p.Pro625fs
Coding: c.1871_1872dup
MANE Select: NM_198253
dbSNP: rs2126644399
Type: Duplication
Location: chr5:1280235 (GRCh38)
Gene constraint: LOEUF 0.593 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 80.98 · 32 PDB
Residue 625: the reverse transcriptase domain; a β-strand

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

Disease context

idiopathic pulmonary fibrosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: dyskeratosis congenita, autosomal dominant 2

For Idiopathic pulmonary fibrosis (Orphanet):

Inheritance: Multigenic/multifactorial
Onset: Adult
Prevalence: 1-5 / 10 000 (Worldwide)

Similar variants

TERT p.Pro625Thr Uncertain significance ★ ⚠ same residue
TERT p.Pro625= Likely benign ★ same residue
TERT c.2655-47_2659dup Uncertain significance ★★ same condition
TERT p.Asp848fs Pathogenic ★ same condition
TERT p.Cys271fs Pathogenic ★ same condition
TERT p.His205fs Pathogenic ★ same condition
TERT p.Ser309fs Pathogenic ★ same condition
TERT p.Pro174_Thr182dup 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/tert-p-pro625fs (accessed [today's date]).

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