Is DNM1 p.Pro150= (c.450C>G) pathogenic?

DNM1 p.Pro150= (c.450C>G) is classified Benign/Likely benign in DNM1 (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-06-01). Rare (popmax 0.21%, nfe); Associated with Inborn genetic diseases.

What condition is associated with DNM1 p.Pro150= (c.450C>G)?

DNM1 p.Pro150= (c.450C>G) is associated with Inborn genetic diseases, developmental and epileptic encephalopathy, 31A (ClinVar).

How common is DNM1 p.Pro150= (c.450C>G) in the general population?

DNM1 p.Pro150= (c.450C>G) is rare (popmax 0.21%, nfe) (gnomAD).

DNM1 p.Pro150=

c.450C>G · rs143834670 · VCV388987

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

rare (popmax 0.21%, nfe)

Conditions

Inborn genetic diseases

⚠ 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 -8.4	GERP -8.2
Overall
CADD	3.921	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.21% European (non-Finnish) · 2,475/1,180,042 alleles

Filtering AF 0.203% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.2%

Overall 0.161% 2,591/1,614,178 alleles · rare exomes 2,458/1,461,846 · genomes 133/152,332 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.21%	477
Amishnot grpmax-eligible	0.11%	912
Remaining individualsnot grpmax-eligible	0.0912%	1,097
African / African-American	0.0346%	2,887
Admixed American	0.03%	3,335
Finnishnot grpmax-eligible	0.0219%	4,571

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: DNM1
Protein: p.Pro150=
Coding: c.450C>G
MANE Select: NM_004408
dbSNP: rs143834670
Type: single nucleotide variant
Location: chr9:128219113 (GRCh38)

Full DNM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: developmental and epileptic encephalopathy, 31A

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/dnm1-p-pro150 (accessed [today's date]).

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