Is DAG1 p.Ser14fs (c.41del) pathogenic?

DAG1 p.Ser14fs (c.41del) is classified Likely pathogenic in DAG1 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-04-28). Absent from gnomAD.

How common is DAG1 p.Ser14fs (c.41del) in the general population?

DAG1 p.Ser14fs (c.41del) is absent from gnomAD (gnomAD).

DAG1 p.Ser14fs

c.41del · rs1553648360 · VCV501482

Likely pathogenic Single submitter

Classification

Likely pathogenic

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 2 of 3
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3	GERP -0.75, 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: DAG1
Protein: p.Ser14fs
Coding: c.41del
MANE Select: NM_004393
dbSNP: rs1553648360
Type: Deletion
Location: chr3:49510575 (GRCh38)
Gene constraint: LOEUF 0.298 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.44 · 8 PDB
Residue 14: a UniProt-annotated variant site (in)

Full DAG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DAG1 p.Ser14Ter Pathogenic ★★ same residue
DAG1 p.Ser14= Benign ★★ same residue
DAG1 p.Ser14Trp Benign ★★ same residue
DAG1 p.Ser14Leu Uncertain significance ★ ⚠ same residue
DAG1 p.Thr531del Uncertain significance ★★ same type
DAG1 c.286-10del Benign/Likely benign ★★ same type
DAG1 p.Gln147fs Pathogenic ★ same type
DAG1 p.Gln206fs Pathogenic ★ 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/dag1-p-ser14fs (accessed [today's date]).

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