Is ASB7 p.Gln36Arg (c.107A>G) pathogenic?

ASB7 p.Gln36Arg (c.107A>G) is classified Uncertain significance in ASB7 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-07). AlphaMissense: likely benign (0.0827); Absent from gnomAD v4.1.

How common is ASB7 p.Gln36Arg (c.107A>G) in the general population?

ASB7 p.Gln36Arg (c.107A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ASB7 p.Gln36Arg (c.107A>G)?

AlphaMissense predicts likely benign (score 0.0827) — an in-silico prediction, not a clinical call.

ASB7 p.Gln36Arg

c.107A>G · rs2505642933 · VCV3130204

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0827 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.0827	likely benign
REVEL	0.363	indeterminate
SaProt	LLR -5.82	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 2.3, phastCons 1
Regional constraint	o/e 0.44	unconstrained · MANE · 36 kb · p 3.9e-29 · regional, not allelic
Overall
CADD	21.2	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ASB7
Protein: p.Gln36Arg
Coding: c.107A>G
MANE Select: NM_198243
dbSNP: rs2505642933
Type: single nucleotide variant
Location: chr15:100612323 (GRCh38)
Gene constraint: LOEUF 0.277 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 92.09 · 1 PDB

Full ASB7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ASB7 p.Ala71= Benign ★★ same type
ASB7 p.Leu233= Benign ★★ same type
ASB7 p.Leu297= Benign ★★ same type
ASB7 p.Ala45Val Uncertain significance ★ ⚠ same type
ASB7 p.Arg231Gln Uncertain significance ★ ⚠ same type
ASB7 p.Asn173Ser Uncertain significance ★ ⚠ same type
ASB7 p.Asp171His Uncertain significance ★ ⚠ same type
ASB7 p.Asp239Gly 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/asb7-p-gln36arg (accessed [today's date]).

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