Is C7 p.Asp106fs (c.317del) pathogenic?

C7 p.Asp106fs (c.317del) is classified Pathogenic in C7 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2018-11-14). Absent from gnomAD; Associated with complement component 7 deficiency.

What condition is associated with C7 p.Asp106fs (c.317del)?

C7 p.Asp106fs (c.317del) is associated with complement component 7 deficiency (ClinVar).

How common is C7 p.Asp106fs (c.317del) in the general population?

C7 p.Asp106fs (c.317del) is absent from gnomAD (gnomAD).

C7 p.Asp106fs

Q: How is Immunodeficiency due to a late component of complement deficiency inherited?

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

c.317del · rs1579848888 · VCV635448

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

complement component 7 deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 2.3, 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: C7
Protein: p.Asp106fs
Coding: c.317del
MANE Select: NM_001565 · reported on NM_000587
dbSNP: rs1579848888
Type: Deletion
Location: chr5:40936374 (GRCh38)
Structure: AlphaFold pLDDT 89.67 · 6 PDB

Full C7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

complement component 7 deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Immunodeficiency due to a late component of complement deficiency (Orphanet):

Inheritance: Autosomal recessive

Similar variants

C7 c.2350+1del Likely pathogenic ★★ same condition
C7 p.Asn136fs Pathogenic/Likely pathogenic ★★ same condition
C7 p.Ser212fs Pathogenic/Likely pathogenic ★★ same condition
C7 p.Lys438fs Pathogenic ★ same condition
C7 c.281-1G>T Pathogenic/Likely pathogenic ★★ same condition
C7 c.63-1G>A Pathogenic ★★ same condition
C7 p.Gly379Arg Pathogenic/Likely pathogenic ★★ ⚠ same condition
C7 p.His643fs 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/c7-p-asp106fs (accessed [today's date]).

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