Is CD8A p.Thr51= (c.153G>T) pathogenic?

CD8A p.Thr51= (c.153G>T) is classified Benign/Likely benign in CD8A (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-02-04). Rare (popmax 0.651%, nfe); Associated with susceptibility to respiratory infections associated with CD8alpha chain mutation.

How common is CD8A p.Thr51= (c.153G>T) in the general population?

CD8A p.Thr51= (c.153G>T) is rare (popmax 0.651%, nfe) (gnomAD).

CD8A p.Thr51=

Q: What condition is associated with CD8A p.Thr51= (c.153G>T)?

CD8A p.Thr51= (c.153G>T) is associated with susceptibility to respiratory infections associated with CD8alpha chain mutation (ClinVar).

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.153G>T · rs147048705 · VCV464445

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

rare (popmax 0.651%, nfe)

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 · no allele here is in the release
Constraint at this position
Conservation	phyloP -3.7	GERP -3.1
Overall
CADD	0.802	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.651% European (non-Finnish) · 7,676/1,179,896 alleles

Filtering AF 0.638% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.633%

Overall 0.513% 8,266/1,612,602 alleles · rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.651%	154
Remaining individualsnot grpmax-eligible	0.389%	257
Finnishnot grpmax-eligible	0.142%	704
African / African-American	0.116%	863
South Asian	0.111%	902
Admixed American	0.085%	1,177
Ashkenazi Jewishnot grpmax-eligible	0.0541%	1,848
Middle Eastern	0.033%	3,027
East Asian	0.00223%	44,874

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: CD8A
Protein: p.Thr51=
Coding: c.153G>T
MANE Select: NM_001768
dbSNP: rs147048705
Type: single nucleotide variant
Location: chr2:86790578 (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 51: 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+4C>G Uncertain significance ★★ same condition
CD8A c.626-2A>T Uncertain significance ★★ same condition
CD8A p.Arg165Leu Uncertain significance ★★ ⚠ same condition
CD8A p.Arg165Pro Uncertain significance ★★ ⚠ same condition
CD8A p.His127Tyr Uncertain significance ★★ ⚠ same condition
CD8A p.His208Leu Uncertain significance ★★ ⚠ same condition
CD8A p.Leu10Arg Uncertain significance ★★ ⚠ same condition
CD8A p.Pro130Arg 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-thr51 (accessed [today's date]).

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