rs148777356
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_020964.3(EPG5):c.2911T>G(p.Leu971Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000807 in 1,614,212 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_020964.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00450 AC: 685AN: 152202Hom.: 5 Cov.: 33
GnomAD3 exomes AF: 0.000990 AC: 247AN: 249574Hom.: 1 AF XY: 0.000753 AC XY: 102AN XY: 135404
GnomAD4 exome AF: 0.000423 AC: 618AN: 1461892Hom.: 6 Cov.: 32 AF XY: 0.000360 AC XY: 262AN XY: 727246
GnomAD4 genome AF: 0.00449 AC: 684AN: 152320Hom.: 5 Cov.: 33 AF XY: 0.00452 AC XY: 337AN XY: 74484
ClinVar
Submissions by phenotype
not provided Benign:2
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See Variant Classification Assertion Criteria. -
Vici syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at