Is ADCY10 p.Asp712= (c.2136C>T) pathogenic?

ADCY10 p.Asp712= (c.2136C>T) is classified Likely benign in ADCY10 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-11-08). Very rare (popmax 0.000254%, nfe).

How common is ADCY10 p.Asp712= (c.2136C>T) in the general population?

ADCY10 p.Asp712= (c.2136C>T) is very rare (popmax 0.000254%, nfe) (gnomAD).

ADCY10 p.Asp712=

c.2136C>T · rs2525329593 · VCV2775517

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000254%, nfe)

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 5.5	GERP 0.41, phastCons 1
Overall
CADD	4.958	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000254% European (non-Finnish) · 3/1,179,856 alleles

Filtering AF 6.8e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.9e-05%

Overall 0.000205% 3/1,461,660 alleles · very rare

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ADCY10
Protein: p.Asp712=
Coding: c.2136C>T
MANE Select: NM_018417
dbSNP: rs2525329593
Type: single nucleotide variant
Location: chr1:167856200 (GRCh38)
Gene constraint: LOEUF 0.922 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.17 · 37 PDB

Full ADCY10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADCY10 c.1139+6T>G Uncertain significance ★★ same type
ADCY10 c.253+4A>G Uncertain significance ★★ same type
ADCY10 p.Ala103Ser Uncertain significance ★★ ⚠ same type
ADCY10 p.Ala1278Asp Uncertain significance ★★ ⚠ same type
ADCY10 p.Ala862Gly Uncertain significance ★★ ⚠ same type
ADCY10 p.Ala991Ser Uncertain significance ★★ ⚠ same type
ADCY10 p.Arg1207Trp Uncertain significance ★★ ⚠ same type
ADCY10 p.Arg1217His 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/adcy10-p-asp712 (accessed [today's date]).

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