Is CD8A p.Asp96Phe (c.286_287delinsTT) pathogenic?

CD8A p.Asp96Phe (c.286287delinsTT) is classified Uncertain significance in CD8A (ClinVar, Single submitter, 1 submitter; last evaluated 2019-08-26). Absent from gnomAD; Associated with susceptibility to respiratory infections associated with CD8alpha chain mutation.

What condition is associated with CD8A p.Asp96Phe (c.286_287delinsTT)?

CD8A p.Asp96Phe (c.286_287delinsTT) is associated with susceptibility to respiratory infections associated with CD8alpha chain mutation (ClinVar).

How common is CD8A p.Asp96Phe (c.286_287delinsTT) in the general population?

CD8A p.Asp96Phe (c.286_287delinsTT) is absent from gnomAD (gnomAD).

CD8A p.Asp96Phe

Q: How is Susceptibility to respiratory infections associated with CD8alpha chain mutation inherited?

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

c.286_287delinsTT · rs1673232344 · VCV963989

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

Conditions

susceptibility to respiratory infections associated with CD8alpha chain mutation

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 -4	GERP -0.91
Regional constraint	o/e 1.13	unconstrained · MANE · 4,902 bp · p 0.024 · 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: CD8A
Protein: p.Asp96Phe
Coding: c.286_287delinsTT
MANE Select: NM_001768
dbSNP: rs1673232344
Type: Indel
Location: chr2:86790444 (GRCh38)
Gene constraint: LOEUF 1.496 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 79.03 · 8 PDB
Residue 96: the ig-like v-type domain; a disulfide bond

Full CD8A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

susceptibility to respiratory infections associated with CD8alpha chain mutation — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Susceptibility to respiratory infections associated with CD8alpha chain mutation (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal
Prevalence: <1 / 1 000 000 (Europe)

Similar variants

CD8A c.403+5_403+6delinsTT Uncertain significance ★ same condition
CD8A c.50-17_50-16delinsGG Conflicting classifications of pathogenicity ★ same condition
CD8A p.Met123_Tyr124delinsLeuSerAsn Uncertain significance ★ same condition
CD8A p.Pro60Ala Uncertain significance ★ same condition
CD8A p.Ser22Gly Uncertain significance ★ same condition
CD8A c.403+4C>G Uncertain significance ★★ same condition
CD8A c.626-2A>T Uncertain significance ★★ same condition
CD8A p.Arg165Leu 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/cd8a-p-asp96phe (accessed [today's date]).

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