Is BSCL2 p.Ser208del (c.618TTC[1]) pathogenic?

BSCL2 p.Ser208del (c.618TTC[1]) is classified Uncertain significance in BSCL2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-13). Absent from gnomAD.

How common is BSCL2 p.Ser208del (c.618TTC[1]) in the general population?

BSCL2 p.Ser208del (c.618TTC[1]) is absent from gnomAD (gnomAD).

BSCL2 p.Ser208del

c.618TTC[1] · rs2539154546 · VCV1804458

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -14	GERP -4.2

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: BSCL2
Protein: p.Ser208del
Coding: c.618TTC[1]
MANE Select: NM_001122955
dbSNP: rs2539154546
Type: Microsatellite
Location: chr11:62694575 (GRCh38)
Gene constraint: LOEUF 0.869 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.09 · 1 PDB

Full BSCL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BSCL2 p.Ser208= Likely benign ★★ same residue
BSCL2 p.434SA[3] Uncertain significance ★★ same type
BSCL2 p.Glu392del Uncertain significance ★★ same type
BSCL2 p.Phe228del Uncertain significance ★★ same type
BSCL2 c.405-21TCC[2] Likely benign ★★ same type
BSCL2 p.Ser109fs Pathogenic ★ same type
BSCL2 p.434SA[1] Conflicting classifications of pathogenicity ★ same type
BSCL2 p.Glu364del 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/bscl2-p-ser208del (accessed [today's date]).

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