HAMP p.Ser76=
c.228A>C · rs1344639816 · VCV2697239
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Conditions
1
hereditary hemochromatosis
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 -6.4 | GERP -2.5 |
| Overall | ||
| CADD | 0.063 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,062 alleles
Overall
6.84e-05%
1/1,461,344 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
- HAMP
- Protein
- p.Ser76=
- Coding
- c.228A>C
- MANE Select
- NM_021175
- dbSNP
- rs1344639816
- Type
- single nucleotide variant
- Location
- chr19:35285015 (GRCh38)
- Gene constraint
- LOEUF 1.464 · pLI 0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.16 · 6 PDB
- Residue 76
- a β-strand; a disulfide bond
Similar variants
- HAMP c.-25G>A Pathogenic/Likely pathogenic ★★ same condition
- HAMP p.Arg75Ter Likely pathogenic ★★ same condition
- HAMP p.Arg59Gly Uncertain significance ★★ ⚠ same condition
- HAMP p.Thr22Ile Uncertain significance ★★ ⚠ same condition
- HAMP c.150+7G>C Likely benign ★★ same condition
- HAMP p.Cys70= Likely benign ★★ same condition
- HAMP p.Gly71Asp Benign/Likely benign ★★ same condition
- HAMP c.150+6C>T 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/hamp-p-ser76 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown