15-55860674-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006154.4(NEDD4):c.779G>A(p.Arg260Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.772 in 1,613,792 control chromosomes in the GnomAD database, including 483,288 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006154.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.721 AC: 109554AN: 152024Hom.: 40004 Cov.: 33
GnomAD3 exomes AF: 0.738 AC: 185428AN: 251290Hom.: 69165 AF XY: 0.746 AC XY: 101244AN XY: 135802
GnomAD4 exome AF: 0.777 AC: 1135572AN: 1461650Hom.: 443274 Cov.: 48 AF XY: 0.777 AC XY: 565326AN XY: 727136
GnomAD4 genome AF: 0.721 AC: 109619AN: 152142Hom.: 40014 Cov.: 33 AF XY: 0.717 AC XY: 53358AN XY: 74398
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at