Is CAMK2B p.Ser327fs (c.979del) pathogenic?

CAMK2B p.Ser327fs (c.979del) is classified Uncertain significance in CAMK2B (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-19). Absent from gnomAD.

How common is CAMK2B p.Ser327fs (c.979del) in the general population?

CAMK2B p.Ser327fs (c.979del) is absent from gnomAD (gnomAD).

CAMK2B p.Ser327fs

c.979del · rs2485932141 · VCV2819442

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 13 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: CAMK2B
Protein: p.Ser327fs
Coding: c.979del
MANE Select: NM_001220
dbSNP: rs2485932141
Type: Deletion
Location: chr7:44239631 (GRCh38)
Gene constraint: LOEUF 0.45 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 72.35 · 4 PDB
Residue 327: a UniProt-annotated variant site (in mrd54)

Full CAMK2B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CAMK2B p.Ser327Phe Uncertain significance ★ ⚠ same residue
CAMK2B p.Ser327= Likely benign ★ same residue
CAMK2B p.Pro437fs Uncertain significance ★★ same type
CAMK2B c.903+17del Likely benign ★★ same type
CAMK2B c.66-2del Likely pathogenic ★ same type
CAMK2B c.1132-20_1155del Uncertain significance ★ same type
CAMK2B c.340_341+14del Uncertain significance ★ same type
CAMK2B c.696+4_696+5del 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/camk2b-p-ser327fs (accessed [today's date]).

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