Is CD207 p.Val78= (c.234C>T) pathogenic?

CD207 p.Val78= (c.234C>T) is classified Benign in CD207 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-10-18). Common (popmax 24.9%, amr) — too common for a highly-penetrant pathogenic allele; Associated with CD207-related disorder.

What condition is associated with CD207 p.Val78= (c.234C>T)?

CD207 p.Val78= (c.234C>T) is associated with CD207-related disorder (ClinVar).

CD207 p.Val78=

Q: How common is CD207 p.Val78= (c.234C>T) in the general population?

CD207 p.Val78= (c.234C>T) is common (popmax 24.9%, amr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.234C>T · rs17662453 · VCV3060462

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 24.9%, 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 0.34	GERP -3.6, phastCons 0.41
Overall
CADD	3.744	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 24.9% Admixed American · 11,996/48,086 alleles

Filtering AF 24.6% ClinGen BA1/BS1 input FAF95, joint · FAF99 24.4%

Overall 20.6% 315,493/1,529,632 alleles · common exomes 287,643/1,377,568 · genomes 27,850/152,064 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	24.9%	4
European (non-Finnish)	22%	5
Remaining individualsnot grpmax-eligible	20.1%	5
Ashkenazi Jewishnot grpmax-eligible	19.7%	5
Finnishnot grpmax-eligible	18.5%	5
Middle Eastern	17.8%	6
South Asian	15%	7
African / African-American	12.5%	8
Amishnot grpmax-eligible	10.6%	9
East Asian	8.38%	12

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.Val78=
Coding: c.234C>T
MANE Select: NM_015717
dbSNP: rs17662453
Type: single nucleotide variant
Location: chr2:70833977 (GRCh38)
Gene constraint: LOEUF 1.205 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.13 · 22 PDB

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.Thr314= Benign same condition
CD207 p.Val278Ala 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-val78 (accessed [today's date]).

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