VEGFD

Chr XAD

vascular endothelial growth factor D

Also known as: FIGF, VEGF-D

NCBI Gene: 2277 ENSG00000165197 UniProt: O43915 OMIM: 148000

The encoded protein is a secreted growth factor that stimulates angiogenesis, lymphangiogenesis, and endothelial cell growth by binding and activating VEGFR-2 and VEGFR-3 receptors. Mutations cause autosomal recessive primary lymphedema with predominantly lower limb involvement. This gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011]

OMIM ResearchGenerating clinical summary…

ADLOEUF 1.155 OMIM phenotypes

Clinical Summary— VEGFD

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 VUS of 4 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.15LOEUF

pLI 0.000

Z-score 1.16

OE 0.66 (0.40–1.15)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.50Z-score

OE missense 0.88 (0.76–1.02)

121 obs / 137.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.66 (0.40–1.15)

0≤0.351.4

Missense OE?0.88 (0.76–1.02)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 9 / 13.6Missense obs/exp: 121 / 137.5Syn Z: -0.66

ClinVar Variant Classifications

4 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1

Likely Benign2

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	1	0	1
Likely Benign	0	2	2
Benign	0	1	1
Total	1	3	4

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

85 pathogenic / likely-pathogenic (of 96) ClinVar copy-number / structural variants overlap VEGFD — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →