Is SMARCE1 p.Ser6= (c.18T>C) pathogenic?

SMARCE1 p.Ser6= (c.18T>C) is classified Likely benign in SMARCE1 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-05-09). No allele count reported in gnomAD v4.1 (AN 1,569,262); Associated with hereditary neoplastic syndrome.

What condition is associated with SMARCE1 p.Ser6= (c.18T>C)?

SMARCE1 p.Ser6= (c.18T>C) is associated with hereditary neoplastic syndrome (ClinVar).

How common is SMARCE1 p.Ser6= (c.18T>C) in the general population?

SMARCE1 p.Ser6= (c.18T>C) is no allele count reported in gnomAD v4.1 (AN 1,569,262) (gnomAD).

SMARCE1 p.Ser6=

c.18T>C · rs2508617555 · VCV1782292

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,569,262)

Conditions

hereditary neoplastic syndrome

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 11	GERP 2.1, phastCons 1
Overall
CADD	14.0	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,569,262). 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: SMARCE1
Protein: p.Ser6=
Coding: c.18T>C
MANE Select: NM_003079
dbSNP: rs2508617555
Type: single nucleotide variant
Location: chr17:40645609 (GRCh38)
Gene constraint: LOEUF 0.318 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 70.72 · 8 PDB
Residue 6: the 'disordered' region

Full SMARCE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

SMARCE1 p.Ser6Cys Uncertain significance ★ same residue
SMARCE1 p.Ser6Tyr Uncertain significance ★ ⚠ same residue
SMARCE1 p.Arg158Ter Pathogenic ★★ same condition
SMARCE1 p.Arg239Ter Pathogenic ★★ same condition
SMARCE1 p.Arg251Ter Pathogenic/Likely pathogenic ★★ same condition
SMARCE1 p.Gln225Ter Pathogenic ★★ same condition
SMARCE1 p.Glu110Ter Pathogenic ★★ same condition
SMARCE1 p.Glu165Ter Pathogenic ★★ 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/smarce1-p-ser6 (accessed [today's date]).

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