Is MAP1B p.Pro819fs (c.2456del) pathogenic?

MAP1B p.Pro819fs (c.2456del) is classified Likely pathogenic in MAP1B (ClinVar, Single submitter, 1 submitter; last evaluated 2019-11-01). No gnomAD frequency available for this variant.

How common is MAP1B p.Pro819fs (c.2456del) in the general population?

MAP1B p.Pro819fs (c.2456del) is no gnomAD frequency available for this variant (gnomAD).

MAP1B p.Pro819fs

c.2456del · rs1747146910 · VCV871777

Likely pathogenic Single submitter

Classification

Likely 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 in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 5 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 2.1, 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: MAP1B
Protein: p.Pro819fs
Coding: c.2456del
MANE Select: NM_005909
dbSNP: rs1747146910
Type: Deletion
Location: chr5:72195809 (GRCh38)
Gene constraint: LOEUF 0.105 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 46.18
Residue 819: a UniProt-annotated variant site (in pvnh9)

Full MAP1B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

MAP1B p.Lys781_Ile782insTer Pathogenic ★★ same type
MAP1B p.Arg990fs Likely pathogenic ★ same type
MAP1B p.Asp1992fs Likely pathogenic ★ same type
MAP1B p.Asp2238_Leu2239insTer Likely pathogenic ★ same type
MAP1B p.Gln1441fs Pathogenic ★ same type
MAP1B p.Glu334fs Likely pathogenic ★ same type
MAP1B p.Lys2321fs Likely pathogenic ★ same type
MAP1B p.Lys663fs Pathogenic ★ 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/map1b-p-pro819fs (accessed [today's date]).

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