Is ASB10 p.Pro191fs (c.570del) pathogenic?

ASB10 p.Pro191fs (c.570del) is classified Uncertain significance in ASB10 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-16). Ultra-rare (popmax 0.0457%, afr).

How common is ASB10 p.Pro191fs (c.570del) in the general population?

ASB10 p.Pro191fs (c.570del) is ultra-rare (popmax 0.0457%, afr) (gnomAD).

ASB10 p.Pro191fs

c.570del · rs754054996 · VCV2884295

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

ultra-rare (popmax 0.0457%, afr)

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 2 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.47	GERP -3
Overall
CADD	20.4	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0457% African / African-American · 34/74,350 alleles

Filtering AF 0.0336% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0294%

Overall 0.00227% 36/1,586,214 alleles · ultra-rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0457%	2,187
Remaining individualsnot grpmax-eligible	0.00163%	61,408
Finnishnot grpmax-eligible	0.00162%	61,764

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: ASB10
Protein: p.Pro191fs
Coding: c.570del
MANE Select: NM_001142459
dbSNP: rs754054996
Type: Deletion
Location: chr7:151186406 (GRCh38)
Gene constraint: LOEUF 1.634 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 78.98

Full ASB10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ASB10 p.Pro191Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
ASB10 c.585-157del Benign ★ same type
ASB10 c.585-158_585-157del 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/asb10-p-pro191fs (accessed [today's date]).

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