Is MAP1B p.Ser1751= (c.5253C>T) pathogenic?

MAP1B p.Ser1751= (c.5253C>T) is classified Likely benign in MAP1B (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-12-26). Rare (popmax 0.109%, afr); Associated with MAP1B-related disorder.

What condition is associated with MAP1B p.Ser1751= (c.5253C>T)?

MAP1B p.Ser1751= (c.5253C>T) is associated with MAP1B-related disorder (ClinVar).

How common is MAP1B p.Ser1751= (c.5253C>T) in the general population?

MAP1B p.Ser1751= (c.5253C>T) is rare (popmax 0.109%, afr) (gnomAD).

MAP1B p.Ser1751=

c.5253C>T · rs113052571 · VCV3049168

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.109%, afr)

Conditions

MAP1B-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -14	GERP -4.5
Overall
CADD	1.197	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.109% African / African-American · 82/75,036 alleles

Filtering AF 0.0902% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0831%

Overall 0.00966% 156/1,614,116 alleles · rare exomes 85/1,461,846 · genomes 71/152,270 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.109%	915
Remaining individualsnot grpmax-eligible	0.0224%	4,465
Middle Eastern	0.0165%	6,062
Admixed American	0.00666%	15,005
Finnishnot grpmax-eligible	0.00469%	21,331
South Asian	0.00439%	22,770
European (non-Finnish)	0.00398%	25,107
East Asian	0.00223%	44,876

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: MAP1B
Protein: p.Ser1751=
Coding: c.5253C>T
MANE Select: NM_005909
dbSNP: rs113052571
Type: single nucleotide variant
Location: chr5:72198608 (GRCh38)
Gene constraint: LOEUF 0.105 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 46.18
Residue 1751: a UniProt-annotated variant site (in pvnh9); a UniProt-annotated variant site (in pvnh9; no effect on protein expression); the 'disordered' region

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

Disease context

MAP1B-related disorder

Similar variants

MAP1B p.Pro1182Arg Uncertain significance ★★ ⚠ same condition
MAP1B p.Thr2194Met Uncertain significance ★★ ⚠ same condition
MAP1B p.Gln325Ter Likely pathogenic ★ same condition
MAP1B p.Lys751Ter Likely pathogenic ★ same condition
MAP1B p.Arg64Gln Uncertain significance ★ same condition
MAP1B p.Asp1637Asn Uncertain significance ★ ⚠ same condition
MAP1B p.Glu678Gly Uncertain significance ★ ⚠ same condition
MAP1B p.Glu927Asp Uncertain significance ★ ⚠ 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/map1b-p-ser1751 (accessed [today's date]).

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