Is ACVR2B c.*2791C>T pathogenic?

ACVR2B c.2791C>T is classified Uncertain significance in ACVR2B (ClinVar, Single submitter, 1 submitter; last evaluated 2017-04-27). Ultra-rare (popmax 0.0832%, sas); Associated with heterotaxy, visceral, 4, autosomal.

What condition is associated with ACVR2B c.*2791C>T?

ACVR2B c.*2791C>T is associated with heterotaxy, visceral, 4, autosomal (ClinVar).

How common is ACVR2B c.*2791C>T in the general population?

ACVR2B c.*2791C>T is ultra-rare (popmax 0.0832%, sas) (gnomAD).

ACVR2B c.*2791C>T

rs577902511 · VCV901500

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0832%, sas)

Conditions

heterotaxy, visceral, 4, autosomal

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 -0.36	GERP -1.8
Non-coding constraint	Z 0.66	1 kb window · o/e 0.95 · regional · uncalibrated
Overall
CADD	4.666	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0832% South Asian · 4/4,808 alleles

Filtering AF 0.0284% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0171%

Overall 0.00525% 8/152,292 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0832%	1,202
African / African-American	0.00481%	20,786
European (non-Finnish)	0.00294%	34,043

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ACVR2B
Coding: c.*2791C>T
MANE Select: NM_001106
dbSNP: rs577902511
Type: single nucleotide variant
Location: chr3:38486123 (GRCh38)
Gene constraint: LOEUF 0.408 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 84.18 · 9 PDB

Full ACVR2B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

heterotaxy, visceral, 4, autosomal — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ACVR2B c.*4984T>C Uncertain significance ★★ same condition
ACVR2B c.*9473T>C Uncertain significance ★★ same condition
ACVR2B p.Arg161Trp Uncertain significance ★★ ⚠ same condition
ACVR2B p.Arg163His Uncertain significance ★★ ⚠ same condition
ACVR2B p.Arg21His Uncertain significance ★★ ⚠ same condition
ACVR2B p.Arg309His Uncertain significance ★★ ⚠ same condition
ACVR2B p.Arg482Gln Uncertain significance ★★ ⚠ same condition
ACVR2B p.Gln246His 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/acvr2b-c-star-2791c-t (accessed [today's date]).

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