Is SLC2A10 p.Ser255= (c.765C>T) pathogenic?

SLC2A10 p.Ser255= (c.765C>T) is classified Conflicting classifications of pathogenicity in SLC2A10 (ClinVar, Conflicting submitters, 14 submitters; last evaluated 2026-01-26). Rare (popmax 0.147%, amr); Associated with familial thoracic aortic aneurysm and aortic dissection.

How common is SLC2A10 p.Ser255= (c.765C>T) in the general population?

SLC2A10 p.Ser255= (c.765C>T) is rare (popmax 0.147%, amr) (gnomAD).

SLC2A10 p.Ser255=

Q: What condition is associated with SLC2A10 p.Ser255= (c.765C>T)?

SLC2A10 p.Ser255= (c.765C>T) is associated with familial thoracic aortic aneurysm and aortic dissection, arterial tortuosity syndrome (ClinVar).

Q: How is Familial thoracic aortic aneurysm and aortic dissection inherited?

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

c.765C>T · rs142106322 · VCV213717

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 14 submitters

gnomAD v4.1

Rare

rare (popmax 0.147%, amr)

Conditions

familial thoracic aortic aneurysm and aortic dissection

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 -0.94	GERP -1.5, phastCons 0.002
Overall
CADD	6.011	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.147% Admixed American · 88/60,036 alleles

Filtering AF 0.122% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.113%

Overall 0.0717% 1,157/1,614,238 alleles · rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.147%	682
European (non-Finnish)	0.0848%	1,179
Remaining individualsnot grpmax-eligible	0.0736%	1,359
Finnishnot grpmax-eligible	0.0187%	5,337
African / African-American	0.0107%	9,384
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,604
East Asian	0.00223%	44,878

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: SLC2A10
Protein: p.Ser255=
Coding: c.765C>T
MANE Select: NM_030777
dbSNP: rs142106322
Type: single nucleotide variant
Location: chr20:46725801 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 74.78

Full SLC2A10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

familial thoracic aortic aneurysm and aortic dissection — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: arterial tortuosity syndrome

For Familial thoracic aortic aneurysm and aortic dissection (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult, Childhood

Similar variants

SLC2A10 c.1411+2T>A Pathogenic/Likely pathogenic ★★ same condition
SLC2A10 p.Arg105Cys Pathogenic/Likely pathogenic ★★ same condition
SLC2A10 p.Arg132Trp Pathogenic/Likely pathogenic ★★ same condition
SLC2A10 p.Arg229Ter Pathogenic ★★ same condition
SLC2A10 p.Arg231Gln Pathogenic ★★ same condition
SLC2A10 p.Arg231Trp Pathogenic/Likely pathogenic ★★ same condition
SLC2A10 p.Arg444Ter Pathogenic/Likely pathogenic ★★ same condition
SLC2A10 p.Gln243Lys Likely pathogenic ★★ 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/slc2a10-p-ser255 (accessed [today's date]).

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