Is CD207 p.Thr314= (c.942G>A) pathogenic?

CD207 p.Thr314= (c.942G>A) is classified Benign in CD207 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-10-18). Common (popmax 26.3%, amr) — too common for a highly-penetrant pathogenic allele; Associated with CD207-related disorder.

What condition is associated with CD207 p.Thr314= (c.942G>A)?

CD207 p.Thr314= (c.942G>A) is associated with CD207-related disorder (ClinVar).

CD207 p.Thr314=

Q: How common is CD207 p.Thr314= (c.942G>A) in the general population?

CD207 p.Thr314= (c.942G>A) is common (popmax 26.3%, amr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.942G>A · rs2080390 · VCV3060627

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 26.3%, amr) — too common for a highly-penetrant pathogenic allele

Conditions

CD207-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 -9.9
Overall
CADD	0.355	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 26.3% Admixed American · 15,762/59,920 alleles

Filtering AF 26% ClinGen BA1/BS1 input FAF95, joint · FAF99 25.8%

Overall 23.8% 383,601/1,612,600 alleles · common exomes 354,639/1,460,620 · genomes 28,962/151,980 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	26.3%	4
European (non-Finnish)	25.9%	4
Ashkenazi Jewishnot grpmax-eligible	25.3%	4
Remaining individualsnot grpmax-eligible	23.1%	4
Finnishnot grpmax-eligible	21.9%	5
Middle Eastern	21.3%	5
Amishnot grpmax-eligible	20.5%	5
South Asian	18.6%	5
East Asian	7.67%	13
African / African-American	7.09%	14

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: CD207
Protein: p.Thr314=
Coding: c.942G>A
MANE Select: NM_015717
dbSNP: rs2080390
Type: single nucleotide variant
Location: chr2:70831095 (GRCh38)
Gene constraint: LOEUF 1.205 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.13 · 22 PDB
Residue 314: the c-type lectin domain

Full CD207 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CD207-related disorder

Similar variants

CD207 p.Ala55Val Benign same condition
CD207 p.Ala61= Likely benign same condition
CD207 p.Gln136Glu Benign same condition
CD207 p.Glu114Val Benign same condition
CD207 p.Pro328= Benign same condition
CD207 p.Ser237= Benign same condition
CD207 p.Val278Ala Benign same condition
CD207 p.Val78= 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/cd207-p-thr314 (accessed [today's date]).

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