Is CDC37 p.Phe151= (c.453C>T) pathogenic?

CDC37 p.Phe151= (c.453C>T) is classified Benign in CDC37 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-07-31). Common (popmax 6.82%, afr) — too common for a highly-penetrant pathogenic allele.

CDC37 p.Phe151=

Q: How common is CDC37 p.Phe151= (c.453C>T) in the general population?

CDC37 p.Phe151= (c.453C>T) is common (popmax 6.82%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.453C>T · rs61747102 · VCV710754

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Common

common (popmax 6.82%, afr) — too common for a highly-penetrant pathogenic allele

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 -0.63	GERP -3.9
Overall
CADD	9.09	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 6.82% African / African-American · 5,115/75,016 alleles

Filtering AF 6.66% ClinGen BA1/BS1 input FAF95, joint · FAF99 6.6%

Overall 0.37% 5,970/1,614,042 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	6.82%	15
Admixed American	0.508%	197
Remaining individualsnot grpmax-eligible	0.435%	230
Middle Eastern	0.215%	466
Ashkenazi Jewishnot grpmax-eligible	0.128%	779
European (non-Finnish)	0.0177%	5,646
South Asian	0.0165%	6,072
Finnishnot grpmax-eligible	0.00468%	21,347

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: CDC37
Protein: p.Phe151=
Coding: c.453C>T
MANE Select: NM_007065
dbSNP: rs61747102
Type: single nucleotide variant
Location: chr19:10395469 (GRCh38)
Gene constraint: LOEUF 0.321 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 81.83 · 19 PDB
Residue 151: an α-helix

Full CDC37 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CDC37 p.Ala329Ser Uncertain significance ★ ⚠ same type
CDC37 p.Ala366Val Uncertain significance ★ ⚠ same type
CDC37 p.Ala86Val Uncertain significance ★ ⚠ same type
CDC37 p.Arg166Cys Uncertain significance ★ ⚠ same type
CDC37 p.Arg235Gln Uncertain significance ★ ⚠ same type
CDC37 p.Arg235Trp Uncertain significance ★ ⚠ same type
CDC37 p.Arg246His Uncertain significance ★ ⚠ same type
CDC37 p.Arg264Gln Uncertain significance ★ ⚠ same type

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/cdc37-p-phe151 (accessed [today's date]).

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