Is BLM p.Asp295del (c.874GAT[3]) pathogenic?

BLM p.Asp295del (c.874GAT[3]) is classified Uncertain significance in BLM (ClinVar, Single submitter, 1 submitter; last evaluated 2020-01-20). No allele count reported in gnomAD v4.1 (AN 1,612,440); Associated with Bloom syndrome.

What condition is associated with BLM p.Asp295del (c.874GAT[3])?

BLM p.Asp295del (c.874GAT[3]) is associated with Bloom syndrome (ClinVar).

How common is BLM p.Asp295del (c.874GAT[3]) in the general population?

BLM p.Asp295del (c.874GAT[3]) is no allele count reported in gnomAD v4.1 (AN 1,612,440) (gnomAD).

How is Bloom syndrome inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

BLM p.Asp295del

c.874GAT[3] · rs1208432656 · VCV1054960

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,612,440)

Conditions

Bloom syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.4	GERP -1.1, phastCons 0.61
Region caveats
Repeat context	tandem	(TGA)n simple repeat · ambiguous alignment · confidence, not pathogenicity

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,612,440). 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: BLM
Protein: p.Asp295del
Coding: c.874GAT[3]
MANE Select: NM_000057
dbSNP: rs1208432656
Type: Microsatellite
Location: chr15:90751860 (GRCh38)
Gene constraint: LOEUF 0.847 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 61.10 · 16 PDB

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

Disease context

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

For Bloom syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Antenatal, Neonatal
Prevalence: 1-9 / 100 000 (Specific population)

Similar variants

BLM p.Asp295dup Uncertain significance ★★ same residue
BLM p.Asp295Tyr Uncertain significance ★★ ⚠ same residue
BLM p.Asp295Asn Conflicting classifications of pathogenicity ★ ⚠ same residue
BLM p.Asp295Glu Uncertain significance ★ ⚠ same residue
BLM p.Arg191fs Pathogenic ★★ same condition
BLM p.Asn202fs Pathogenic ★★ same condition
BLM p.Asn782fs Pathogenic/Likely pathogenic ★★ same condition
BLM p.Cys361_Asp362delinsTer 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/blm-p-asp295del (accessed [today's date]).

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