Is BAP1 p.Val247= (c.741G>A) pathogenic?

BAP1 p.Val247= (c.741G>A) is classified Likely benign in BAP1 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2022-09-12). Very rare (popmax 6.84e-05%); Associated with hereditary neoplastic syndrome.

What condition is associated with BAP1 p.Val247= (c.741G>A)?

BAP1 p.Val247= (c.741G>A) is associated with hereditary neoplastic syndrome, BAP1-related tumor predisposition syndrome (ClinVar).

How common is BAP1 p.Val247= (c.741G>A) in the general population?

BAP1 p.Val247= (c.741G>A) is very rare (popmax 6.84e-05%) (gnomAD).

BAP1 p.Val247=

c.741G>A · rs1705155568 · VCV924554

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

very rare (popmax 6.84e-05%)

Conditions

hereditary neoplastic syndrome

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 -0.12	GERP -1.6, phastCons 0.48
Overall
CADD	5.842	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 6.84e-05%

Overall 6.84e-05% 1/1,461,854 alleles · very rare

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: BAP1
Protein: p.Val247=
Coding: c.741G>A
MANE Select: NM_007212 · reported on NM_004656
dbSNP: rs1705155568
Type: single nucleotide variant
Location: chr3:52406295 (GRCh38)
Structure: AlphaFold pLDDT 78.27 · 28 PDB
Residue 247: a β-strand

Full BAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: BAP1-related tumor predisposition syndrome

Similar variants

BAP1 p.Val247Met Uncertain significance ★★ ⚠ same residue
BAP1 p.Val247Ala Uncertain significance ★ ⚠ same residue
BAP1 p.Val247Gly Uncertain significance ★ same residue
RNF2 p.Tyr247His Uncertain significance ★ ⚠ same residue
BAP1 c.1117-1G>A Likely pathogenic ★★ same condition
BAP1 c.122+1G>A Pathogenic ★★ same condition
BAP1 c.122+1G>T Pathogenic/Likely pathogenic ★★ same condition
BAP1 c.122+5G>A 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/bap1-p-val247 (accessed [today's date]).

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