Is TANC2 p.Arg33= (c.97A>C) pathogenic?

TANC2 p.Arg33= (c.97A>C) is classified Uncertain significance in TANC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-01). No allele count reported in gnomAD v4.1 (AN 1,590,468).

How common is TANC2 p.Arg33= (c.97A>C) in the general population?

TANC2 p.Arg33= (c.97A>C) is no allele count reported in gnomAD v4.1 (AN 1,590,468) (gnomAD).

TANC2 p.Arg33=

c.97A>C · rs2509899449 · VCV2648036

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,590,468)

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 11	GERP 3.9, phastCons 1
Overall
CADD	13.76	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,590,468). 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: TANC2
Protein: p.Arg33=
Coding: c.97A>C
MANE Select: NM_001394998
dbSNP: rs2509899449
Type: single nucleotide variant
Location: chr17:63073972 (GRCh38)
Gene constraint: LOEUF 0.17 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 59.92
Residue 33: the 'disordered' region

Full TANC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TANC2 p.Arg33Thr Uncertain significance ★ ⚠ same residue
TANC2 p.Arg1516Gln Uncertain significance ★★ ⚠ same type
TANC2 p.Arg1741Gln Uncertain significance ★★ ⚠ same type
TANC2 p.Arg1923Ter Uncertain significance ★★ same type
TANC2 p.Arg268Cys Uncertain significance ★★ ⚠ same type
TANC2 p.Arg388His Uncertain significance ★★ ⚠ same type
TANC2 p.Arg466Lys Uncertain significance ★★ ⚠ same type
TANC2 p.Arg563Trp 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/tanc2-p-arg33 (accessed [today's date]).

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