Is BLK p.His293= (c.879C>T) pathogenic?

BLK p.His293= (c.879C>T) is classified Benign/Likely benign in BLK (ClinVar, Multiple submitters, 9 submitters; last evaluated 2026-06-01). Rare (popmax 0.4%, sas); Associated with maturity-onset diabetes of the young type 11.

What condition is associated with BLK p.His293= (c.879C>T)?

BLK p.His293= (c.879C>T) is associated with maturity-onset diabetes of the young type 11, systemic lupus erythematosus (ClinVar).

How common is BLK p.His293= (c.879C>T) in the general population?

BLK p.His293= (c.879C>T) is rare (popmax 0.4%, sas) (gnomAD).

How is MODY inherited?

Typically Autosomal dominant, Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

BLK p.His293=

c.879C>T · rs142623841 · VCV361487

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 9 submitters

gnomAD v4.1

Rare

rare (popmax 0.4%, sas)

Conditions

maturity-onset diabetes of the young type 11

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 -9.6	GERP -3.9
Overall
CADD	1.062	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.4% South Asian · 364/91,082 alleles

Filtering AF 0.366% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.352%

Overall 0.0409% 660/1,614,212 alleles · rare exomes 599/1,461,886 · genomes 61/152,326 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.4%	250
Middle Eastern	0.247%	404
Remaining individualsnot grpmax-eligible	0.0768%	1,302
African / African-American	0.0733%	1,365
Admixed American	0.0566%	1,765
European (non-Finnish)	0.0121%	8,252
East Asian	0.00223%	44,882

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: BLK
Protein: p.His293=
Coding: c.879C>T
MANE Select: NM_001715
dbSNP: rs142623841
Type: single nucleotide variant
Location: chr8:11556764 (GRCh38)
Gene constraint: LOEUF 1.295 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.89
Residue 293: the protein kinase domain

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

Disease context

maturity-onset diabetes of the young type 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: systemic lupus erythematosus

For MODY (Orphanet):

Inheritance: Autosomal dominant, Not applicable
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

BLK p.Arg131Gln Uncertain significance ★★ ⚠ same condition
BLK p.Arg180His Uncertain significance ★★ ⚠ same condition
BLK p.Arg295Trp Uncertain significance ★★ same condition
BLK p.Arg298Gln Uncertain significance ★★ ⚠ same condition
BLK p.Gln226Pro Uncertain significance ★★ ⚠ same condition
BLK p.Gly451Ser Uncertain significance ★★ ⚠ same condition
BLK p.His55Arg Uncertain significance ★★ ⚠ same condition
BLK p.Ile338Thr 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/blk-p-his293 (accessed [today's date]).

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