NEMF p.Ser282=
c.846A>C · rs148876540 · VCV3043431
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.38%, afr)
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 2.1 | GERP 0.48, phastCons 1 |
| Overall | ||
| CADD | 10.97 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.38%
African / African-American · 284/74,720 alleles
Filtering AF
0.344%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.33%
Overall
0.0226%
364/1,608,128 alleles · rare
exomes 207/1,455,762 · genomes 157/152,366 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.38% | 263 |
| Middle Eastern | 0.133% | 753 |
| Remaining individualsnot grpmax-eligible | 0.053% | 1,887 |
| Admixed American | 0.0223% | 4,494 |
| European (non-Finnish) | 0.00212% | 47,123 |
| South Asian | 0.00112% | 89,528 |
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
- NEMF
- Protein
- p.Ser282=
- Coding
- c.846A>C
- MANE Select
- NM_004713
- dbSNP
- rs148876540
- Type
- single nucleotide variant
- Location
- chr14:49832087 (GRCh38)
- Gene constraint
- LOEUF 0.687 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.96 · 2 PDB
- Residue 282
- a β-strand
Similar variants
- NEMF p.Arg671Ter Pathogenic ★★ same type
- NEMF p.Tyr470Ter Pathogenic ★★ same type
- NEMF p.Arg934Ser Uncertain significance ★★ ⚠ same type
- NEMF p.Ile248Thr Uncertain significance ★★ ⚠ same type
- NEMF p.Pro584Ser Uncertain significance ★★ ⚠ same type
- NEMF p.Ser785Pro Uncertain significance ★★ ⚠ same type
- NEMF c.1915+8C>T Likely benign ★★ same type
- NEMF p.Ala75= Benign ★★ 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/nemf-p-ser282 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown