Is TERF2IP p.Arg129= (c.385C>A) pathogenic?

TERF2IP p.Arg129= (c.385C>A) is classified Likely benign in TERF2IP (ClinVar, Single submitter, 1 submitter; last evaluated 2020-09-18). No allele count reported in gnomAD v4.1 (AN 1,548,554).

How common is TERF2IP p.Arg129= (c.385C>A) in the general population?

TERF2IP p.Arg129= (c.385C>A) is no allele count reported in gnomAD v4.1 (AN 1,548,554) (gnomAD).

TERF2IP p.Arg129=

c.385C>A · rs2082317976 · VCV1735581

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,548,554)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.86	GERP -0.31, phastCons 0.098
Overall
CADD	10.11	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,548,554). 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: TERF2IP
Protein: p.Arg129=
Coding: c.385C>A
MANE Select: NM_018975
dbSNP: rs2082317976
Type: single nucleotide variant
Location: chr16:75648267 (GRCh38)
Gene constraint: LOEUF 1.45 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 72.76 · 5 PDB
Residue 129: the myb-like domain; the 'disordered' region

Full TERF2IP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TERF2IP p.Arg129Gln Uncertain significance ★ ⚠ same residue
TERF2IP p.Arg129Gly Uncertain significance ★ ⚠ same residue
TERF2IP p.Arg129Leu Uncertain significance ★ ⚠ same residue
TERF2IP p.Arg129Trp Uncertain significance ★ ⚠ same residue
TERF2IP p.Ala123Gly Uncertain significance ★★ ⚠ same type
TERF2IP p.Ala200Gly Uncertain significance ★★ ⚠ same type
TERF2IP p.Ala387Val Uncertain significance ★★ ⚠ same type
TERF2IP p.Ala61Thr Uncertain significance ★★ ⚠ same type

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/terf2ip-p-arg129 (accessed [today's date]).

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