Is CORO2B p.Gly62= (c.186C>T) pathogenic?

CORO2B p.Gly62= (c.186C>T) is classified Likely benign in CORO2B (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-01). Rare (popmax 0.191%, nfe).

How common is CORO2B p.Gly62= (c.186C>T) in the general population?

CORO2B p.Gly62= (c.186C>T) is rare (popmax 0.191%, nfe) (gnomAD).

CORO2B p.Gly62=

c.186C>T · rs61747072 · VCV2645490

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.191%, nfe)

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 -15	GERP -3.5
Overall
CADD	0.76	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.191% European (non-Finnish) · 2,257/1,180,000 alleles

Filtering AF 0.185% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.182%

Overall 0.158% 2,542/1,612,516 alleles · rare

Ancestry group	Frequency	1 in
Finnishnot grpmax-eligible	0.227%	440
European (non-Finnish)grpmax	0.191%	523
Remaining individualsnot grpmax-eligible	0.107%	933
Ashkenazi Jewishnot grpmax-eligible	0.0946%	1,057
African / African-American	0.032%	3,126
Admixed American	0.03%	3,334
Middle Eastern	0.0165%	6,062
South Asian	0.00549%	18,213

Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: CORO2B
Protein: p.Gly62=
Coding: c.186C>T
MANE Select: NM_006091
dbSNP: rs61747072
Type: single nucleotide variant
Location: chr15:68645330 (GRCh38)
Gene constraint: LOEUF 0.633 · pLI 0.02 (gnomAD)
Structure: AlphaFold pLDDT 91.58

Full CORO2B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CORO2B p.Ala334Val Uncertain significance ★ ⚠ same type
CORO2B p.Ala60Thr Uncertain significance ★ ⚠ same type
CORO2B p.Arg124Gln Uncertain significance ★ ⚠ same type
CORO2B p.Arg13His Uncertain significance ★ ⚠ same type
CORO2B p.Arg213His Uncertain significance ★ ⚠ same type
CORO2B p.Arg227Gln Uncertain significance ★ ⚠ same type
CORO2B p.Arg236Gln Uncertain significance ★ ⚠ same type
CORO2B p.Arg244Thr 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/coro2b-p-gly62 (accessed [today's date]).

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