Is BLK p.Asp34= (c.102C>T) pathogenic?

BLK p.Asp34= (c.102C>T) is classified Benign/Likely benign in BLK (ClinVar, Multiple submitters, 8 submitters; last evaluated 2026-01-25). Low-frequency (popmax 2.57%, afr); Associated with systemic lupus erythematosus.

What condition is associated with BLK p.Asp34= (c.102C>T)?

BLK p.Asp34= (c.102C>T) is associated with systemic lupus erythematosus, maturity-onset diabetes of the young type 11 (ClinVar).

How common is BLK p.Asp34= (c.102C>T) in the general population?

BLK p.Asp34= (c.102C>T) is low-frequency (popmax 2.57%, afr) (gnomAD).

How is Systemic lupus erythematosus inherited?

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

BLK p.Asp34=

c.102C>T · rs75383960 · VCV128525

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 8 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.57%, afr)

Conditions

systemic lupus erythematosus

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 -7.8	GERP -3.5
Overall
CADD	0.105	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.57% African / African-American · 1,927/75,010 alleles

Filtering AF 2.47% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.43%

Overall 0.139% 2,232/1,610,934 alleles · low-frequency exomes 1,173/1,458,672 · genomes 1,059/152,262 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.57%	39
Remaining individualsnot grpmax-eligible	0.204%	491
Admixed American	0.135%	741
Middle Eastern	0.132%	758
South Asian	0.0176%	5,691
European (non-Finnish)	0.00594%	16,840
Finnishnot grpmax-eligible	0.00481%	20,795

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.Asp34=
Coding: c.102C>T
MANE Select: NM_001715
dbSNP: rs75383960
Type: single nucleotide variant
Location: chr8:11543326 (GRCh38)
Gene constraint: LOEUF 1.295 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.89
Residue 34: the 'disordered' region

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

Disease context

systemic lupus erythematosus — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: maturity-onset diabetes of the young type 11

For Systemic lupus erythematosus (Orphanet):

Inheritance: Not applicable
Onset: Adolescent, Adult, Childhood, Infancy
Prevalence: 1-5 / 10 000 (France)

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-asp34 (accessed [today's date]).

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