Is CC2D1A p.Asp371= (c.1113C>T) pathogenic?

CC2D1A p.Asp371= (c.1113C>T) is classified Likely benign in CC2D1A (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-13). No allele count reported in gnomAD v4.1 (AN 1,608,600).

How common is CC2D1A p.Asp371= (c.1113C>T) in the general population?

CC2D1A p.Asp371= (c.1113C>T) is no allele count reported in gnomAD v4.1 (AN 1,608,600) (gnomAD).

CC2D1A p.Asp371=

c.1113C>T · VCV3640607

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,608,600)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1	GERP -1.1, phastCons 1
Overall
CADD	11.18	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,608,600). 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: CC2D1A
Protein: p.Asp371=
Coding: c.1113C>T
MANE Select: NM_017721
Type: single nucleotide variant
Location: chr19:13919006 (GRCh38)
Gene constraint: LOEUF 0.649 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.71 · 1 PDB

Full CC2D1A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CC2D1A p.Asp371Asn Uncertain significance ★ ⚠ same residue
CC2D1A c.2225+1G>A Likely pathogenic ★★ same type
CC2D1A c.2454+1G>A Likely pathogenic ★★ same type
CC2D1A c.2710+1G>A Likely pathogenic ★★ same type
CC2D1A c.61-2A>G Likely pathogenic ★★ same type
CC2D1A c.748+1G>T Pathogenic ★★ same type
CC2D1A c.1941-6C>T Uncertain significance ★★ same type
CC2D1A c.2073+5G>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/cc2d1a-p-asp371 (accessed [today's date]).

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