Is ALB p.Pro204= (c.612A>G) pathogenic?

ALB p.Pro204= (c.612A>G) is classified Benign/Likely benign in ALB (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-03-01). Rare (popmax 0.346%, nfe); Associated with hyperthyroxinemia, familial dysalbuminemic.

What condition is associated with ALB p.Pro204= (c.612A>G)?

ALB p.Pro204= (c.612A>G) is associated with hyperthyroxinemia, familial dysalbuminemic (ClinVar).

How common is ALB p.Pro204= (c.612A>G) in the general population?

ALB p.Pro204= (c.612A>G) is rare (popmax 0.346%, nfe) (gnomAD).

ALB p.Pro204=

c.612A>G · rs58639526 · VCV349620

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

rare (popmax 0.346%, nfe)

Conditions

hyperthyroxinemia, familial dysalbuminemic

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.024	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.5	GERP -3.7
Overall
CADD	2.288	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.346% European (non-Finnish) · 4,083/1,179,840 alleles

Filtering AF 0.337% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.334%

Overall 0.277% 4,471/1,613,962 alleles · rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.346%	289
Remaining individualsnot grpmax-eligible	0.253%	396
Admixed American	0.24%	417
Middle Eastern	0.066%	1,516
Ashkenazi Jewishnot grpmax-eligible	0.0642%	1,558
African / African-American	0.06%	1,668
Finnishnot grpmax-eligible	0.0265%	3,767
South Asian	0.0011%	91,074

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: ALB
Protein: p.Pro204=
Coding: c.612A>G
MANE Select: NM_001319193 · reported on NM_000477
dbSNP: rs58639526
Type: single nucleotide variant
Location: chr4:73409484 (GRCh38)
Structure: AlphaFold pLDDT 64.11

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

Disease context

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

Similar variants

ALB p.Ala83Gly Uncertain significance ★★ ⚠ same condition
ALB p.Arg105His Uncertain significance ★★ ⚠ same condition
ALB p.Arg23Cys Uncertain significance ★★ ⚠ same condition
ALB p.Asp37Asn Uncertain significance ★★ ⚠ same condition
ALB p.Cys384Arg Uncertain significance ★★ ⚠ same condition
ALB p.Thr491Met Uncertain significance ★★ ⚠ same condition
ALB c.1191+11T>A Benign ★★ same condition
ALB c.1290-6T>C Benign/Likely 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/alb-p-pro204 (accessed [today's date]).

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