Is MYB p.Pro361= (c.1083T>G) pathogenic?

MYB p.Pro361= (c.1083T>G) is classified Likely benign in MYB (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-11-13). Ultra-rare (popmax 0.0512%, eas); Associated with MYB-related disorder.

What condition is associated with MYB p.Pro361= (c.1083T>G)?

MYB p.Pro361= (c.1083T>G) is associated with MYB-related disorder (ClinVar).

How common is MYB p.Pro361= (c.1083T>G) in the general population?

MYB p.Pro361= (c.1083T>G) is ultra-rare (popmax 0.0512%, eas) (gnomAD).

MYB p.Pro361=

c.1083T>G · rs189282361 · VCV3045316

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0512%, eas)

Conditions

MYB-related disorder

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 -3	GERP -5.2
Overall
CADD	4.972	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0512% East Asian · 23/44,882 alleles

Filtering AF 0.035% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0296%

Overall 0.00229% 37/1,614,176 alleles · ultra-rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0512%	1,951
South Asian	0.0143%	7,006
Remaining individualsnot grpmax-eligible	0.0016%	62,512

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: MYB
Protein: p.Pro361=
Coding: c.1083T>G
MANE Select: NM_001130173
dbSNP: rs189282361
Type: single nucleotide variant
Location: chr6:135195882 (GRCh38)
Gene constraint: LOEUF 0.443 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 59.16
Residue 361: the 'disordered' region; the 'negative regulatory domain' region

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

Disease context

MYB-related disorder

Similar variants

MYB p.Pro361Ala Uncertain significance ★ ⚠ same residue
MYB p.Arg757= Benign same condition
MYB p.Glu629Ala Likely benign same condition
MYB p.Gly631Glu Likely benign same condition
MYB p.Tyr110= Likely benign same condition
MYB p.Asp178fs Uncertain significance ★ same condition
MYB p.Thr589= Benign/Likely benign ★★ same type
MYB p.Ala278Thr 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/myb-p-pro361 (accessed [today's date]).

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