Is ABCA1 p.Ser2185= (c.6555T>G) pathogenic?

ABCA1 p.Ser2185= (c.6555T>G) is classified Benign/Likely benign in ABCA1 (ClinVar, Multiple submitters, 5 submitters; last evaluated 2025-12-02). Rare (popmax 0.334%, afr); Associated with Cardiovascular phenotype.

What condition is associated with ABCA1 p.Ser2185= (c.6555T>G)?

ABCA1 p.Ser2185= (c.6555T>G) is associated with Cardiovascular phenotype (ClinVar).

How common is ABCA1 p.Ser2185= (c.6555T>G) in the general population?

ABCA1 p.Ser2185= (c.6555T>G) is rare (popmax 0.334%, afr) (gnomAD).

ABCA1 p.Ser2185=

c.6555T>G · rs146817777 · VCV1208444

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

rare (popmax 0.334%, 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 -1.3	GERP -4.2
Overall
CADD	1.504	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.334% African / African-American · 251/75,050 alleles

Filtering AF 0.3% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.287%

Overall 0.0164% 265/1,614,164 alleles · rare exomes 114/1,461,830 · genomes 151/152,334 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.334%	299
Remaining individualsnot grpmax-eligible	0.0144%	6,946
Admixed American	0.005%	20,009
South Asian	0.0011%	91,084
European (non-Finnish)	8.47e-05%	1,179,997

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: ABCA1
Protein: p.Ser2185=
Coding: c.6555T>G
MANE Select: NM_005502
dbSNP: rs146817777
Type: single nucleotide variant
Location: chr9:104785486 (GRCh38)

Full ABCA1 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/abca1-p-ser2185 (accessed [today's date]).

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