Is DMBT1 p.His805= (c.2415C>T) pathogenic?

DMBT1 p.His805= (c.2415C>T) is classified Likely benign in DMBT1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-03-14). Rare (popmax 0.18%, eas); Associated with DMBT1-related disorder.

What condition is associated with DMBT1 p.His805= (c.2415C>T)?

DMBT1 p.His805= (c.2415C>T) is associated with DMBT1-related disorder (ClinVar).

How common is DMBT1 p.His805= (c.2415C>T) in the general population?

DMBT1 p.His805= (c.2415C>T) is rare (popmax 0.18%, eas) (gnomAD).

DMBT1 p.His805=

c.2415C>T · rs572119448 · VCV3045655

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.18%, eas)

Conditions

DMBT1-related disorder

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 -20	GERP -3.7
Overall
CADD	0.201	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.18% East Asian · 77/42,684 alleles

Filtering AF 0.148% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.136%

Overall 0.0181% 288/1,588,206 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.18%	554
Remaining individualsnot grpmax-eligible	0.0244%	4,101
Middle Eastern	0.0166%	6,016
European (non-Finnish)	0.0154%	6,512
Admixed American	0.0084%	11,901
African / African-American	0.00804%	12,437
South Asian	0.00575%	17,382

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: DMBT1
Protein: p.His805=
Coding: c.2415C>T
MANE Select: NM_001377530
dbSNP: rs572119448
Type: single nucleotide variant
Location: chr10:122592510 (GRCh38)
Gene constraint: LOEUF 0.904 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.29 · 6 PDB
Residue 805: a disulfide bond; the srcr 6 domain

Full DMBT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DMBT1-related disorder

Similar variants

DMBT1 p.His805Asn Uncertain significance ★★ ⚠ same residue
DMBT1 p.His805Arg Uncertain significance ★ ⚠ same residue
DMBT1 c.1033+10C>T Likely benign same condition
DMBT1 c.1459+7A>T Likely benign same condition
DMBT1 c.6026-9G>C Benign same condition
DMBT1 c.6548+10C>T Likely benign same condition
DMBT1 p.Ala268Val Benign same condition
DMBT1 p.Arg1098Gln Benign 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/dmbt1-p-his805 (accessed [today's date]).

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