Is MAP3K14 p.Ser806= (c.2418G>C) pathogenic?

MAP3K14 p.Ser806= (c.2418G>C) is classified Likely benign in MAP3K14 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-12-14). Absent from gnomAD v4.1; Associated with NIK deficiency.

What condition is associated with MAP3K14 p.Ser806= (c.2418G>C)?

MAP3K14 p.Ser806= (c.2418G>C) is associated with NIK deficiency (ClinVar).

How common is MAP3K14 p.Ser806= (c.2418G>C) in the general population?

MAP3K14 p.Ser806= (c.2418G>C) is absent from gnomAD v4.1 (gnomAD).

How is NIK deficiency inherited?

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

MAP3K14 p.Ser806=

c.2418G>C · rs190992383 · VCV796951

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

NIK deficiency

⚠ 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 -2.2	GERP -3.8
Overall
CADD	1.181	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: MAP3K14
Protein: p.Ser806=
Coding: c.2418G>C
MANE Select: NM_003954
dbSNP: rs190992383
Type: single nucleotide variant
Location: chr17:45267107 (GRCh38)

Full MAP3K14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

NIK deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For NIK deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

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/map3k14-p-ser806 (accessed [today's date]).

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