Is STRC p.Gln87fs (c.261_264del) pathogenic?

STRC p.Gln87fs (c.261264del) is classified Likely pathogenic in STRC (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-05). Very rare (popmax 0.00028%, nfe); Associated with STRC-related disorder.

What condition is associated with STRC p.Gln87fs (c.261_264del)?

STRC p.Gln87fs (c.261_264del) is associated with STRC-related disorder (ClinVar).

How common is STRC p.Gln87fs (c.261_264del) in the general population?

STRC p.Gln87fs (c.261_264del) is very rare (popmax 0.00028%, nfe) (gnomAD).

STRC p.Gln87fs

c.261_264del · rs2507597886 · VCV2628933

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00028%, nfe)

Conditions

STRC-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 2 of 29
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 8.6	GERP 1.7, phastCons 1
Region caveats
Repeat context	seg dup	· reads may not map uniquely · confidence, not pathogenicity

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00028% European (non-Finnish) · 2/713,248 alleles

Filtering AF 4.7e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.8e-05%

Overall 0.000191% 2/1,048,848 alleles · very rare exomes 2/912,502 · genomes 0/136,346 · joint denominator

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: STRC
Protein: p.Gln87fs
Coding: c.261_264del
MANE Select: NM_153700
dbSNP: rs2507597886
Type: Deletion
Location: chr15:43618157 (GRCh38)
Gene constraint: LOEUF 0.713 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.21

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

Disease context

STRC-related disorder

Similar variants

STRC p.Glu1504fs Pathogenic/Likely pathogenic ★★ same condition
STRC p.Leu1417_Leu1418insTer Pathogenic/Likely pathogenic ★★ same condition
STRC p.Arg1521fs Pathogenic ★ same condition
STRC p.Gln87Ter Pathogenic ★ same residue
STRC p.Gly1539fs Pathogenic ★ same condition
STRC p.Gly645fs Likely pathogenic ★ same condition
STRC p.Pro1327fs Likely pathogenic ★ same condition
STRC c.4219-1G>A Pathogenic/Likely 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/strc-p-gln87fs (accessed [today's date]).

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