Is CAMK2G p.Ala5= (c.15C>T) pathogenic?

CAMK2G p.Ala5= (c.15C>T) is classified Benign in CAMK2G (ClinVar, No assertion criteria, 1 submitter; last evaluated 2020-02-18). Low-frequency (popmax 2.82%, afr); Associated with CAMK2G-related disorder.

What condition is associated with CAMK2G p.Ala5= (c.15C>T)?

CAMK2G p.Ala5= (c.15C>T) is associated with CAMK2G-related disorder (ClinVar).

How common is CAMK2G p.Ala5= (c.15C>T) in the general population?

CAMK2G p.Ala5= (c.15C>T) is low-frequency (popmax 2.82%, afr) (gnomAD).

CAMK2G p.Ala5=

c.15C>T · rs147311100 · VCV3043719

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

low-frequency (popmax 2.82%, afr)

Conditions

CAMK2G-related disorder

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 6.3	GERP -2.4, phastCons 1
Overall
CADD	16.79	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.82% African / African-American · 1,969/69,912 alleles

Filtering AF 2.71% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.67%

Overall 0.155% 2,356/1,522,422 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.82%	36
Admixed American	0.191%	525
Middle Eastern	0.143%	699
Remaining individualsnot grpmax-eligible	0.138%	723
European (non-Finnish)	0.0169%	5,928
South Asian	0.00602%	16,603
Ashkenazi Jewishnot grpmax-eligible	0.00376%	26,568

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: CAMK2G
Protein: p.Ala5=
Coding: c.15C>T
MANE Select: NM_001367534
dbSNP: rs147311100
Type: single nucleotide variant
Location: chr10:73874447 (GRCh38)
Gene constraint: LOEUF 0.404 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 79.50 · 2 PDB

Full CAMK2G gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CAMK2G-related disorder

Similar variants

CAMK2G c.1534+153G>A Uncertain significance ★ same condition
CAMK2G p.Glu404Ter Uncertain significance same condition
CAMK2G p.Ile471Val Uncertain significance ⚠ same condition
CAMK2G c.903+9C>T Likely benign same condition
CAMK2G p.Gly486= Benign same condition
CAMK2G p.Pro270= Likely benign same condition
CAMK2G p.Thr306= Likely benign same condition
CAMK2G p.Thr47= Likely benign 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/camk2g-p-ala5 (accessed [today's date]).

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