Is MAF p.Pro69fs (c.206del) pathogenic?

MAF p.Pro69fs (c.206del) is classified Likely pathogenic in MAF (ClinVar, Single submitter, 2 submitters; last evaluated 2023-11-14). No gnomAD frequency available for this variant; Associated with cataract 21 multiple types.

What condition is associated with MAF p.Pro69fs (c.206del)?

MAF p.Pro69fs (c.206del) is associated with cataract 21 multiple types (ClinVar).

How common is MAF p.Pro69fs (c.206del) in the general population?

MAF p.Pro69fs (c.206del) is no gnomAD frequency available for this variant (gnomAD).

How is Early onset non-syndromic cataract inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

MAF p.Pro69fs

c.206del · rs2143816916 · VCV2628089

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

cataract 21 multiple types

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 1 of 2
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.82	GERP -4.8, phastCons 0.99

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: MAF
Protein: p.Pro69fs
Coding: c.206del
MANE Select: NM_005360
dbSNP: rs2143816916
Type: Deletion
Location: chr16:79599697 (GRCh38)
Gene constraint: LOEUF 0.852 · pLI 0.03 (gnomAD)
Structure: AlphaFold pLDDT 62.21
Residue 69: the 'disordered' region; a UniProt-annotated variant site (in aygrp)

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

Disease context

cataract 21 multiple types — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Early onset non-syndromic cataract (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Infancy, Neonatal

Similar variants

MAF p.Gly234_Gly238del Likely benign ★★ same condition
MAF p.Met1_Gly234del Pathogenic ★ same condition
MAF p.Pro69Arg Likely pathogenic ★ same residue
MAF p.Asn275_Leu278del Uncertain significance ★ same condition
MAF p.Gly233_Gly238del Uncertain significance ★ same condition
MAF p.Val164_Val167del Uncertain significance ★ same condition
MAF p.143GA[2] Likely benign ★ same condition
MAF p.Ala302Val Pathogenic/Likely pathogenic ★★ same condition

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/maf-p-pro69fs (accessed [today's date]).

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