Is MEN1 p.Asp70fs (c.202_206dup) pathogenic?

MEN1 p.Asp70fs (c.202206dup) is classified Pathogenic in MEN1 (ClinVar, Multiple submitters, 7 submitters; last evaluated 2026-06-15). Absent from gnomAD; Associated with Familial hyperparathyroidism or Hypocalciuric hypercalcaemia.

What condition is associated with MEN1 p.Asp70fs (c.202_206dup)?

MEN1 p.Asp70fs (c.202_206dup) is associated with Familial hyperparathyroidism or Hypocalciuric hypercalcaemia, multiple endocrine neoplasia type 1, hereditary neoplastic syndrome (ClinVar).

How common is MEN1 p.Asp70fs (c.202_206dup) in the general population?

MEN1 p.Asp70fs (c.202_206dup) is absent from gnomAD (gnomAD).

MEN1 p.Asp70fs

c.202_206dup · rs730882136 · VCV183079

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 7 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 2 of 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.46	GERP -3.3, 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: MEN1
Protein: p.Asp70fs
Coding: c.202_206dup
MANE Select: NM_001370259
dbSNP: rs730882136
Type: Microsatellite
Location: chr11:64809903 (GRCh38)
Gene constraint: LOEUF 0.206 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 85.13 · 69 PDB
Residue 70: a turn

Full MEN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Also linked: multiple endocrine neoplasia type 1 hereditary neoplastic syndrome

Similar variants

MEN1 p.Asp70Asn Uncertain significance ★★ ⚠ same residue
MEN1 p.Asp70Gly Uncertain significance ★★ ⚠ same residue
MEN1 p.Asp70Tyr Uncertain significance ★★ ⚠ same residue
MEN1 p.Asp70Ala Uncertain significance ★ ⚠ same residue
MEN1 p.Asp70Glu Uncertain significance ★ ⚠ same residue
MEN1 p.Asp70His Uncertain significance ★ ⚠ same residue
MEN1 p.Asp70= Likely benign ★ same residue
MEN1 p.Ala242fs 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/men1-p-asp70fs (accessed [today's date]).

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