Is BAAT p.Ser281= (c.843T>G) pathogenic?

BAAT p.Ser281= (c.843T>G) is classified Benign/Likely benign in BAAT (ClinVar, Multiple submitters, 5 submitters; last evaluated 2025-12-01). Rare (popmax 0.674%, sas); Associated with hypercholanemia, familial 1.

What condition is associated with BAAT p.Ser281= (c.843T>G)?

BAAT p.Ser281= (c.843T>G) is associated with hypercholanemia, familial 1 (ClinVar).

How common is BAAT p.Ser281= (c.843T>G) in the general population?

BAAT p.Ser281= (c.843T>G) is rare (popmax 0.674%, sas) (gnomAD).

How is Familial hypercholanemia inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

BAAT p.Ser281=

c.843T>G · rs140793591 · VCV284049

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

rare (popmax 0.674%, sas)

Conditions

hypercholanemia, familial 1

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 0.008	GERP -3.1
Overall
CADD	1.806	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.674% South Asian · 614/91,086 alleles

Filtering AF 0.63% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.612%

Overall 0.282% 4,549/1,614,180 alleles · rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.674%	148
Middle Eastern	0.528%	189
Ashkenazi Jewishnot grpmax-eligible	0.388%	257
European (non-Finnish)	0.3%	333
Remaining individualsnot grpmax-eligible	0.251%	398
Finnishnot grpmax-eligible	0.0531%	1,884
Admixed American	0.0483%	2,070
African / African-American	0.0373%	2,680

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: BAAT
Protein: p.Ser281=
Coding: c.843T>G
MANE Select: NM_001701
dbSNP: rs140793591
Type: single nucleotide variant
Location: chr9:101362842 (GRCh38)
Gene constraint: LOEUF 1.049 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 95.31
Residue 281: a UniProt-annotated variant site (in fhca3; contrary to wild-type, undetectable expression in hepatocytes)

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

Disease context

hypercholanemia, familial 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial hypercholanemia (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

BAAT c.*1597C>A Uncertain significance ★★ same condition
BAAT p.Arg130Ser Uncertain significance ★★ ⚠ same condition
BAAT p.Asp42Glu Uncertain significance ★★ ⚠ same condition
BAAT p.Leu60= Uncertain significance ★★ same condition
BAAT p.Thr254Met Uncertain significance ★★ ⚠ same condition
BAAT c.*1029A>T Benign ★★ same condition
BAAT c.*1090A>G Benign ★★ same condition
BAAT c.*1458G>A Benign ★★ 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/baat-p-ser281 (accessed [today's date]).

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