Is ANKRD7 p.Leu26Val (c.76T>G) pathogenic?

ANKRD7 p.Leu26Val (c.76T>G) is classified Uncertain significance in ANKRD7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-15). AlphaMissense: likely benign (0.0894); Absent from gnomAD v4.1.

How common is ANKRD7 p.Leu26Val (c.76T>G) in the general population?

ANKRD7 p.Leu26Val (c.76T>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ANKRD7 p.Leu26Val (c.76T>G)?

AlphaMissense predicts likely benign (score 0.0894) — an in-silico prediction, not a clinical call.

ANKRD7 p.Leu26Val

c.76T>G · rs1387101108 · VCV3126948

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0894 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0894	likely benign
REVEL	0.029	moderately benign-leaning
SaProt	LLR -4.18	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.6	GERP -3.7, phastCons 0.28
Regional constraint	o/e 0.89	unconstrained · MANE · 15 kb · p 0.065 · regional, not allelic
Overall
CADD	13.97	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ANKRD7
Protein: p.Leu26Val
Coding: c.76T>G
MANE Select: NM_019644
dbSNP: rs1387101108
Type: single nucleotide variant
Location: chr7:118224906 (GRCh38)
Gene constraint: LOEUF 1.219 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 83.97

Full ANKRD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ANKRD7 p.Ala68Thr Uncertain significance ★ ⚠ same type
ANKRD7 p.Ala99Ser Uncertain significance ★ ⚠ same type
ANKRD7 p.Arg124Cys Uncertain significance ★ ⚠ same type
ANKRD7 p.Arg124His Uncertain significance ★ ⚠ same type
ANKRD7 p.Arg22Gln Uncertain significance ★ ⚠ same type
ANKRD7 p.Arg22Pro Uncertain significance ★ ⚠ same type
ANKRD7 p.Asn20Lys Uncertain significance ★ ⚠ same type
ANKRD7 p.Asp117Asn 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/ankrd7-p-leu26val (accessed [today's date]).

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