7-74045245-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000501.4(ELN):c.493G>T(p.Val165Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000844 in 1,614,168 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000501.4 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: 0.00436 AC: 664AN: 152258Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.00133 AC: 330AN: 248884Hom.: 3 AF XY: 0.000816 AC XY: 110AN XY: 134748
GnomAD4 exome AF: 0.000476 AC: 696AN: 1461792Hom.: 4 Cov.: 31 AF XY: 0.000397 AC XY: 289AN XY: 727196
GnomAD4 genome AF: 0.00437 AC: 666AN: 152376Hom.: 5 Cov.: 33 AF XY: 0.00432 AC XY: 322AN XY: 74520
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not provided Benign:1
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Supravalvar aortic stenosis Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at