Is MOS p.Ser182Ter (c.545C>A) pathogenic?

MOS p.Ser182Ter (c.545C>A) is classified Likely pathogenic in MOS (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-08). Absent from gnomAD v4.1; Associated with oocyte/zygote/embryo maturation arrest 20.

What condition is associated with MOS p.Ser182Ter (c.545C>A)?

MOS p.Ser182Ter (c.545C>A) is associated with oocyte/zygote/embryo maturation arrest 20 (ClinVar).

How common is MOS p.Ser182Ter (c.545C>A) in the general population?

MOS p.Ser182Ter (c.545C>A) is absent from gnomAD v4.1 (gnomAD).

MOS p.Ser182Ter

c.545C>A · VCV4850263

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

oocyte/zygote/embryo maturation arrest 20

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (1 of 1) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6.6	GERP 2.2, phastCons 1
Overall
CADD	37.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: MOS
Protein: p.Ser182Ter
Coding: c.545C>A
MANE Select: NM_005372
Type: single nucleotide variant
Location: chr8:56113438 (GRCh38)
Gene constraint: LOEUF 1.944 · pLI 0.10 (gnomAD)
Structure: AlphaFold pLDDT 80.98
Residue 182: the protein kinase domain

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

Disease context

oocyte/zygote/embryo maturation arrest 20 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MOS p.Ala292Val Uncertain significance ★ same condition
MOS p.His199Leu Uncertain significance ★ ⚠ same condition
MOS p.Trp321Ter Uncertain significance ★ same condition
MOS p.Arg246His Pathogenic ⚠ same condition
MOS p.Arg319His Pathogenic ⚠ same condition
MOS p.Asn95Lys Pathogenic ⚠ same condition
MOS p.Cys320Ter Pathogenic same condition
MOS p.Ile197Met 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/mos-p-ser182ter (accessed [today's date]).

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