Is MAF p.Ser70fs (c.208dup) pathogenic?

MAF p.Ser70fs (c.208dup) is classified Pathogenic in MAF (ClinVar, Single submitter, 1 submitter; last evaluated 2017-09-11). No gnomAD frequency available for this variant.

How common is MAF p.Ser70fs (c.208dup) in the general population?

MAF p.Ser70fs (c.208dup) is no gnomAD frequency available for this variant (gnomAD).

MAF p.Ser70fs

c.208dup · rs1555530054 · VCV452100

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 9	GERP 2.4, phastCons 1

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.Ser70fs
Coding: c.208dup
MANE Select: NM_005360
dbSNP: rs1555530054
Type: Duplication
Location: chr16:79599694 (GRCh38)
Gene constraint: LOEUF 0.852 · pLI 0.03 (gnomAD)
Structure: AlphaFold pLDDT 62.21
Residue 70: the 'disordered' region

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

Similar variants

WWOX c.1057-18_1057-17dup Likely benign ★★ same type
MAF p.Ala239fs Likely pathogenic ★ same type
WWOX p.Asn378fs Likely pathogenic ★ same type
MAF p.Ala148_Ser149insGlyAla Uncertain significance ★ same type
WWOX c.*150_*154dup Conflicting classifications of pathogenicity ★ same type
WWOX c.*187_*190dup Uncertain significance ★ same type
WWOX p.Arg395fs Uncertain significance ★ same type
WWOX p.Cys382_Met383insArgCys 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/maf-p-ser70fs (accessed [today's date]).

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