Is PARN p.Phe8fs (c.24del) pathogenic?

PARN p.Phe8fs (c.24del) is classified Pathogenic in PARN (ClinVar, Single submitter, 1 submitter; last evaluated 2016-10-14). No gnomAD frequency available for this variant; Associated with dyskeratosis congenita, autosomal recessive 6.

What condition is associated with PARN p.Phe8fs (c.24del)?

PARN p.Phe8fs (c.24del) is associated with dyskeratosis congenita, autosomal recessive 6 (ClinVar).

How common is PARN p.Phe8fs (c.24del) in the general population?

PARN p.Phe8fs (c.24del) is no gnomAD frequency available for this variant (gnomAD).

How is Dyskeratosis congenita inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

PARN p.Phe8fs

c.24del · rs1555512179 · VCV436158

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

dyskeratosis congenita, autosomal recessive 6

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 2 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	phastCons 1

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

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: PARN
Protein: p.Phe8fs
Coding: c.24del
MANE Select: NM_002582
dbSNP: rs1555512179
Type: Deletion
Location: chr16:14629670 (GRCh38)
Gene constraint: LOEUF 0.918 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 81.60 · 3 PDB
Residue 8: an α-helix

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

Disease context

dyskeratosis congenita, autosomal recessive 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Dyskeratosis congenita (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Adolescent, Adult, Childhood, Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

PARN p.Val318fs Pathogenic ★★ same condition
PARN c.840+6del Benign/Likely benign ★★ same condition
PARN c.1263-11_1269del Likely pathogenic ★ same condition
PARN c.1319-2_1319del Likely pathogenic ★ same condition
PARN c.177+1del Pathogenic ★ same condition
PARN p.Arg237_Tyr238insTer Pathogenic ★ same condition
PARN p.Gln375fs Pathogenic ★ same condition
PARN p.Glu511_Tyr512insTer 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/parn-p-phe8fs (accessed [today's date]).

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