Is CD207 p.Ser237= (c.711T>C) pathogenic?

CD207 p.Ser237= (c.711T>C) is classified Benign in CD207 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-11-06). Common (popmax 28.5%, afr) — too common for a highly-penetrant pathogenic allele; Associated with CD207-related disorder.

What condition is associated with CD207 p.Ser237= (c.711T>C)?

CD207 p.Ser237= (c.711T>C) is associated with CD207-related disorder (ClinVar).

CD207 p.Ser237=

Q: How common is CD207 p.Ser237= (c.711T>C) in the general population?

CD207 p.Ser237= (c.711T>C) is common (popmax 28.5%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.711T>C · rs6712863 · VCV3059699

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 28.5%, afr) — 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 -0.93	GERP -4
Overall
CADD	3.798	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 28.5% African / African-American · 21,373/74,874 alleles

Filtering AF 28.2% ClinGen BA1/BS1 input FAF95, joint · FAF99 28.1%

Overall 9.56% 154,110/1,612,684 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	28.5%	4
South Asian	16.1%	6
Middle Eastern	13.9%	7
East Asian	12.2%	8
Remaining individualsnot grpmax-eligible	10.6%	9
European (non-Finnish)	8.07%	12
Ashkenazi Jewishnot grpmax-eligible	7.99%	13
Amishnot grpmax-eligible	7.69%	13
Admixed American	6.96%	14
Finnishnot grpmax-eligible	5.36%	19

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.Ser237=
Coding: c.711T>C
MANE Select: NM_015717
dbSNP: rs6712863
Type: single nucleotide variant
Location: chr2:70832906 (GRCh38)
Gene constraint: LOEUF 1.205 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.13 · 22 PDB
Residue 237: an α-helix; the c-type lectin domain; a disulfide bond

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.Thr314= 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-ser237 (accessed [today's date]).

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