Is ABCG8 p.Pro17= (c.51C>A) pathogenic?

ABCG8 p.Pro17= (c.51C>A) is classified Benign/Likely benign in ABCG8 (ClinVar, Multiple submitters, 8 submitters; last evaluated 2026-01-24). Low-frequency (popmax 2.8%, afr); Associated with Cardiovascular phenotype.

What condition is associated with ABCG8 p.Pro17= (c.51C>A)?

ABCG8 p.Pro17= (c.51C>A) is associated with Cardiovascular phenotype (ClinVar).

How common is ABCG8 p.Pro17= (c.51C>A) in the general population?

ABCG8 p.Pro17= (c.51C>A) is low-frequency (popmax 2.8%, afr) (gnomAD).

ABCG8 p.Pro17=

c.51C>A · rs72647316 · VCV193451

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 8 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.8%, afr)

Conditions

Cardiovascular phenotype

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.072	GERP 0.47, phastCons 0.001
Overall
CADD	4.008	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.8% African / African-American · 2,045/73,154 alleles

Filtering AF 2.69% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.65%

Overall 0.145% 2,252/1,551,256 alleles · low-frequency exomes 1,033/1,398,956 · genomes 1,219/152,300 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.8%	36
Remaining individualsnot grpmax-eligible	0.203%	493
Admixed American	0.127%	785
Middle Eastern	0.0669%	1,495
South Asian	0.00357%	28,010
European (non-Finnish)	0.00113%	88,215

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: ABCG8
Protein: p.Pro17=
Coding: c.51C>A
MANE Select: NM_022437
dbSNP: rs72647316
Type: single nucleotide variant
Location: chr2:43839104 (GRCh38)

Full ABCG8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/abcg8-p-pro17 (accessed [today's date]).

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