Is BAX p.Asp102= (c.306C>T) pathogenic?

BAX p.Asp102= (c.306C>T) is classified Benign in BAX (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-05-21). Rare (popmax 0.373%, afr).

How common is BAX p.Asp102= (c.306C>T) in the general population?

BAX p.Asp102= (c.306C>T) is rare (popmax 0.373%, afr) (gnomAD).

BAX p.Asp102=

c.306C>T · rs148204524 · VCV721597

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.373%, afr)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.19	benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -7.7
Overall
CADD	5.082	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.373% African / African-American · 274/73,366 alleles

Filtering AF 0.337% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.323%

Overall 0.0192% 306/1,590,780 alleles · rare exomes 153/1,438,588 · genomes 153/152,192 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.373%	268
Admixed American	0.0214%	4,670
Remaining individualsnot grpmax-eligible	0.0195%	5,125
South Asian	0.00113%	88,188
European (non-Finnish)	0.000599%	167,065

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: BAX
Protein: p.Asp102=
Coding: c.306C>T
MANE Select: NM_138761
dbSNP: rs148204524
Type: single nucleotide variant
Location: chr19:48956270 (GRCh38)
Gene constraint: LOEUF 1.245 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.71 · 37 PDB
Residue 102: a turn

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

Similar variants

BAX c.474+151G>A Uncertain significance ★ same type
BAX c.474+20C>A Uncertain significance ★ same type
BAX c.474+34C>T Uncertain significance ★ same type
BAX c.474+76G>A Uncertain significance ★ same type
BAX c.474+95G>C Uncertain significance ★ same type
BAX p.Ala81Pro Uncertain significance ★ ⚠ same type
BAX p.Arg134Gly Uncertain significance ★ ⚠ same type
BAX p.Arg145Gln Uncertain significance ★ ⚠ same type

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/bax-p-asp102 (accessed [today's date]).

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