NM_004469.5:c.91-6565A>G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004469.5(VEGFD):c.91-6565A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.429 in 110,930 control chromosomes in the GnomAD database, including 9,469 homozygotes. There are 13,748 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004469.5 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.429 AC: 47568AN: 110885Hom.: 9463 Cov.: 23 show subpopulations
GnomAD4 genome AF: 0.429 AC: 47614AN: 110930Hom.: 9469 Cov.: 23 AF XY: 0.414 AC XY: 13748AN XY: 33168 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at