NBAS p.Ala1738Phe
c.5212_5213delinsTT · rs2528125731 · VCV2132624
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP 0.74, phastCons 0.99 |
| Regional constraint | o/e 1.03 | unconstrained · MANE · 394 kb · p 0.09 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- NBAS
- Protein
- p.Ala1738Phe
- Coding
- c.5212_5213delinsTT
- MANE Select
- NM_015909
- dbSNP
- rs2528125731
- Type
- Indel
- Location
- chr2:15277027 (GRCh38)
- Gene constraint
- LOEUF 0.761 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.42
- Residue 1738
- a UniProt-annotated variant site (in ilfs2; uncertain significance); a UniProt-annotated variant site (found in a patient with a multisystem disease involving liver, eye, immune system, connective tissue and bone; uncertain significance); a UniProt-annotated variant site (found in a patient with a multisystem disease involving liver, eye, immune system, connective tissue and bone; uncertain significance; reduced protein expression levels in fibroblasts); a UniProt-annotated variant site (found in a patient with a multisystem disease involving liver, eye, immune system, connective tissue and bone; uncertain significance; reduced collagen secretion; diffuse collagen bundles; reduced protein expression in fibroblasts); the 'interaction with zw10 and rint1' region
Similar variants
- NBAS p.Ala1738Gly Conflicting classifications of pathogenicity ★ ⚠ same residue
- NBAS p.Ala1738Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
- NBAS p.Ala1738Val Conflicting classifications of pathogenicity ★ ⚠ same residue
- NBAS p.Tyr1457Ter Pathogenic ★★ same type
- NBAS p.Asn1822_Ile1823delinsThrPhe Uncertain significance ★★ same type
- NBAS p.Gln2322fs Likely pathogenic ★ same type
- NBAS p.Asp925Cys Uncertain significance ★ same type
- NBAS p.Glu2329Leu 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/nbas-p-ala1738phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown