Is CORO1A p.Pro112= (c.336A>G) pathogenic?

CORO1A p.Pro112= (c.336A>G) is classified Benign in CORO1A (ClinVar, Multiple submitters, 9 submitters; last evaluated 2026-02-04). Common (popmax 90.6%, eas) — too common for a highly-penetrant pathogenic allele; Associated with severe combined immunodeficiency due to CORO1A deficiency.

What condition is associated with CORO1A p.Pro112= (c.336A>G)?

CORO1A p.Pro112= (c.336A>G) is associated with severe combined immunodeficiency due to CORO1A deficiency (ClinVar).

CORO1A p.Pro112=

Q: How common is CORO1A p.Pro112= (c.336A>G) in the general population?

CORO1A p.Pro112= (c.336A>G) is common (popmax 90.6%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

Q: How is Severe combined immunodeficiency due to CORO1A deficiency inherited?

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

c.336A>G · rs1132812 · VCV379386

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 9 submitters

gnomAD v4.1

Common

common (popmax 90.6%, eas) — too common for a highly-penetrant pathogenic allele

Conditions

severe combined immunodeficiency due to CORO1A deficiency

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -15
Overall
CADD	0.095	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 90.6% East Asian · 40,645/44,850 alleles

Filtering AF 89.9% ClinGen BA1/BS1 input FAF95, joint · FAF99 89.6%

Overall 57.9% 933,105/1,610,452 alleles · common exomes 830,073/1,458,336 · genomes 103,032/152,116 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	90.6%	1
African / African-American	90.1%	1
Admixed American	74.3%	1
South Asian	68.2%	1
Ashkenazi Jewishnot grpmax-eligible	65.9%	2
Middle Eastern	63%	2
Finnishnot grpmax-eligible	61%	2
Remaining individualsnot grpmax-eligible	60.7%	2
European (non-Finnish)	52.5%	2
Amishnot grpmax-eligible	46.3%	2

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: CORO1A
Protein: p.Pro112=
Coding: c.336A>G
MANE Select: NM_007074
dbSNP: rs1132812
Type: single nucleotide variant
Location: chr16:30186830 (GRCh38)

Full CORO1A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

severe combined immunodeficiency due to CORO1A deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Severe combined immunodeficiency due to CORO1A deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood, Infancy, Neonatal

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/coro1a-p-pro112 (accessed [today's date]).

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