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

MEFV p.Asp102= (c.306T>C) is classified Benign/Likely benign in MEFV (ClinVar, Multiple submitters, 19 submitters; last evaluated 2026-02-04). Common (popmax 59.5%, amr) — too common for a highly-penetrant pathogenic allele; Associated with autoinflammatory syndrome.

What condition is associated with MEFV p.Asp102= (c.306T>C)?

MEFV p.Asp102= (c.306T>C) is associated with autoinflammatory syndrome, familial Mediterranean fever, autosomal dominant, familial Mediterranean fever (ClinVar).

MEFV p.Asp102=

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

MEFV p.Asp102= (c.306T>C) is common (popmax 59.5%, amr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.306T>C · rs224225 · VCV36509

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 19 submitters

gnomAD v4.1

Common

common (popmax 59.5%, amr) — too common for a highly-penetrant pathogenic allele

Conditions

autoinflammatory syndrome

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 0.56	GERP -3.1
Overall
CADD	1.556	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 59.5% Admixed American · 35,730/60,006 alleles

Filtering AF 59% ClinGen BA1/BS1 input FAF95, joint · FAF99 58.8%

Overall 45.7% 737,360/1,612,084 alleles · common exomes 665,515/1,459,948 · genomes 71,845/152,136 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	59.5%	2
Finnishnot grpmax-eligible	50.7%	2
African / African-American	50.5%	2
European (non-Finnish)	47.8%	2
Remaining individualsnot grpmax-eligible	43.4%	2
Amishnot grpmax-eligible	41%	2
Ashkenazi Jewishnot grpmax-eligible	40.2%	2
Middle Eastern	31.7%	3
South Asian	21.7%	5
East Asian	14.8%	7

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: MEFV
Protein: p.Asp102=
Coding: c.306T>C
MANE Select: NM_000243
dbSNP: rs224225
Type: single nucleotide variant
Location: chr16:3254762 (GRCh38)
Gene constraint: LOEUF 1.147 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 73.64 · 11 PDB
Residue 102: the 'disordered' region

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

Disease context

autoinflammatory syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: familial Mediterranean fever, autosomal dominant familial Mediterranean fever

Similar variants

MEFV p.Arg761His Pathogenic/Likely pathogenic ★★ ⚠ same condition
MEFV p.Ser242Arg Pathogenic/Likely pathogenic ★★ same condition
MEFV p.Val726Ala Pathogenic/Likely pathogenic ★★ ⚠ same condition
MEFV c.*845C>T Uncertain significance ★★ same condition
MEFV p.Ala193Thr Uncertain significance ★★ ⚠ same condition
MEFV p.Ala2Gly Uncertain significance ★★ ⚠ same condition
MEFV p.Ala416Thr Uncertain significance ★★ ⚠ same condition
MEFV p.Ala744Thr Uncertain significance ★★ ⚠ 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/mefv-p-asp102 (accessed [today's date]).

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