Is ACVR2B c.*5700A>C pathogenic?

ACVR2B c.5700A>C is classified Benign in ACVR2B (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-12). Rare (popmax 0.859%, afr); Associated with heterotaxy, visceral, 4, autosomal.

What condition is associated with ACVR2B c.*5700A>C?

ACVR2B c.*5700A>C is associated with heterotaxy, visceral, 4, autosomal (ClinVar).

How common is ACVR2B c.*5700A>C in the general population?

ACVR2B c.*5700A>C is rare (popmax 0.859%, afr) (gnomAD).

ACVR2B c.*5700A>C

rs141178727 · VCV345004

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.859%, afr)

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 2.3	GERP -1.2, phastCons 0.005
Non-coding constraint	Z 1.32	1 kb window · o/e 0.90 · regional · uncalibrated
Overall
CADD	4.397	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.859% African / African-American · 357/41,574 alleles

Filtering AF 0.785% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.756%

Overall 0.238% 362/152,332 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.859%	116
Remaining individualsnot grpmax-eligible	0.0946%	1,057
Admixed American	0.0131%	7,648
European (non-Finnish)	0.00147%	68,030

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.*5700A>C
MANE Select: NM_001106
dbSNP: rs141178727
Type: single nucleotide variant
Location: chr3:38489032 (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-5700a-c (accessed [today's date]).

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