Is HAMP p.Pro64= (c.192C>T) pathogenic?

HAMP p.Pro64= (c.192C>T) is classified Likely benign in HAMP (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-18). Absent from gnomAD v4.1; Associated with hereditary hemochromatosis.

What condition is associated with HAMP p.Pro64= (c.192C>T)?

HAMP p.Pro64= (c.192C>T) is associated with hereditary hemochromatosis (ClinVar).

How common is HAMP p.Pro64= (c.192C>T) in the general population?

HAMP p.Pro64= (c.192C>T) is absent from gnomAD v4.1 (gnomAD).

HAMP p.Pro64=

c.192C>T · rs2513558859 · VCV2908865

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

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 1.8	GERP 0.047, phastCons 1
Overall
CADD	11.56	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: HAMP
Protein: p.Pro64=
Coding: c.192C>T
MANE Select: NM_021175
dbSNP: rs2513558859
Type: single nucleotide variant
Location: chr19:35284979 (GRCh38)
Gene constraint: LOEUF 1.464 · pLI 0.01 (gnomAD)
Structure: AlphaFold pLDDT 62.16 · 6 PDB

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

Disease context

hereditary hemochromatosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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-pro64 (accessed [today's date]).

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