Is SUN5 p.Ser284Ter (c.851C>G) pathogenic?

SUN5 p.Ser284Ter (c.851C>G) is classified Pathogenic in SUN5 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2016-11-07). Absent from gnomAD v4.1; Associated with spermatogenic failure 16.

What condition is associated with SUN5 p.Ser284Ter (c.851C>G)?

SUN5 p.Ser284Ter (c.851C>G) is associated with spermatogenic failure 16 (ClinVar).

How common is SUN5 p.Ser284Ter (c.851C>G) in the general population?

SUN5 p.Ser284Ter (c.851C>G) is absent from gnomAD v4.1 (gnomAD).

SUN5 p.Ser284Ter

c.851C>G · rs886041025 · VCV268052

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

spermatogenic failure 16

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	predicted	premature termination codon in exon 11 of 13
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 2.6, phastCons 1
Overall
CADD	41.0	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: SUN5
Protein: p.Ser284Ter
Coding: c.851C>G
MANE Select: NM_080675
dbSNP: rs886041025
Type: single nucleotide variant
Location: chr20:32985782 (GRCh38)
Gene constraint: LOEUF 1.146 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.31
Residue 284: a UniProt-annotated variant site (in spgf16; in mouse model abolishes interaction with dnajb13); a UniProt-annotated variant site (in spgf16; significant reduction in protein expression; impaired localization to nuclear inner membrane; in mouse model decreases interaction with dnajb13); the sun domain

Full SUN5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

spermatogenic failure 16 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

SUN5 p.Arg356Cys Likely pathogenic ★★ same condition
SUN5 p.Arg149Ter Likely pathogenic ★ same condition
SUN5 p.Met162Lys Pathogenic ⚠ same condition
SUN5 p.Thr275Met Pathogenic same condition
SUN5 p.Val261Met Pathogenic same condition
SUN5 p.Val128fs Pathogenic/Likely pathogenic ★★ same condition
SUN5 c.211+1_211+2dupGT Likely pathogenic ★ same condition
SUN5 c.984+8C>T 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/sun5-p-ser284ter (accessed [today's date]).

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