Is HBA2 p.Val71fs (c.210_211insT) pathogenic?

HBA2 p.Val71fs (c.210211insT) is classified Pathogenic in HBA2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-04-28). No gnomAD frequency available for this variant; Associated with Heinz body anemia.

What condition is associated with HBA2 p.Val71fs (c.210_211insT)?

HBA2 p.Val71fs (c.210_211insT) is associated with Heinz body anemia (ClinVar).

How common is HBA2 p.Val71fs (c.210_211insT) in the general population?

HBA2 p.Val71fs (c.210_211insT) is no gnomAD frequency available for this variant (gnomAD).

HBA2 p.Val71fs

c.210_211insT · rs2142018005 · VCV1098491

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Heinz body anemia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 2 of 3
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -20
Region caveats
Repeat context	seg dup	· reads may not map uniquely · confidence, not pathogenicity

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: HBA2
Protein: p.Val71fs
Coding: c.210_211insT
MANE Select: NM_000517
dbSNP: rs2142018005
Type: Insertion
Location: chr16:173239 (GRCh38)
Gene constraint: LOEUF 1.915 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 98.04 · 348 PDB
Residue 71: an α-helix; the globin domain

Full HBA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Heinz body anemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

HBA2 p.Glu28fs Likely pathogenic ★ same condition
HBA2 c.95+2_95+6del Pathogenic ★★★ same condition
HBA2 p.Cys105Arg Likely pathogenic ★★★ same condition
HBA2 p.Leu126Arg Likely pathogenic ★★★ same condition
HBA2 c.96-2A>G Pathogenic ★★ same condition
HBA2 c.*93_*94del Pathogenic/Likely pathogenic ★★ same condition
HBA2 c.*94A>G Pathogenic/Likely pathogenic ★★ same condition
HBA2 p.Asp48His 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/hba2-p-val71fs (accessed [today's date]).

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