Is CDCA7 p.Asn362fs (c.1085del) pathogenic?

CDCA7 p.Asn362fs (c.1085del) is classified Uncertain significance in CDCA7 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-08). Absent from gnomAD.

How common is CDCA7 p.Asn362fs (c.1085del) in the general population?

CDCA7 p.Asn362fs (c.1085del) is absent from gnomAD (gnomAD).

CDCA7 p.Asn362fs

c.1085del · rs2106392341 · VCV1385228

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 8 of 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 1.9, 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: CDCA7
Protein: p.Asn362fs
Coding: c.1085del
MANE Select: NM_031942
dbSNP: rs2106392341
Type: Deletion
Location: chr2:173366330 (GRCh38)
Gene constraint: LOEUF 0.676 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.93 · 2 PDB
Residue 362: an α-helix

Full CDCA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CDCA7 p.Gly245fs Uncertain significance ★ same type
CDCA7 p.Lys18fs Uncertain significance ★ same type
CDCA7 p.Tyr438_Lys440delinsTer Uncertain significance ★ same type
CDCA7 c.1185+20del Likely benign ★ same type
CDCA7 c.1322+17_1322+19del Likely benign ★ same type
CDCA7 c.1322+19del Benign ★ same type
CDCA7 c.1323-12del Benign ★ same type
CDCA7 c.147+9del Likely benign ★ 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/cdca7-p-asn362fs (accessed [today's date]).

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