Is UNC13D p.Val929= (c.2787G>A) pathogenic?

UNC13D p.Val929= (c.2787G>A) is classified Likely benign in UNC13D (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-22). No allele count reported in gnomAD v4.1 (AN 1,589,602); Associated with familial hemophagocytic lymphohistiocytosis 3.

What condition is associated with UNC13D p.Val929= (c.2787G>A)?

UNC13D p.Val929= (c.2787G>A) is associated with familial hemophagocytic lymphohistiocytosis 3 (ClinVar).

How common is UNC13D p.Val929= (c.2787G>A) in the general population?

UNC13D p.Val929= (c.2787G>A) is no allele count reported in gnomAD v4.1 (AN 1,589,602) (gnomAD).

How is Familial hemophagocytic lymphohistiocytosis inherited?

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

UNC13D p.Val929=

c.2787G>A · rs2545976823 · VCV2830956

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,589,602)

Conditions

familial hemophagocytic lymphohistiocytosis 3

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.64	phastCons 0.01
Overall
CADD	7.916	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,589,602). 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: UNC13D
Protein: p.Val929=
Coding: c.2787G>A
MANE Select: NM_199242
dbSNP: rs2545976823
Type: single nucleotide variant
Location: chr17:75830405 (GRCh38)

Full UNC13D gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

familial hemophagocytic lymphohistiocytosis 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial hemophagocytic lymphohistiocytosis (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Infancy
Prevalence: 1-9 / 100 000 (Sweden)

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/unc13d-p-val929 (accessed [today's date]).

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