chr7-138628242-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_001139456.2(SVOPL):c.985G>A(p.Glu329Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000119 in 1,614,184 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E329G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001139456.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000611 AC: 93AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000147 AC: 37AN: 251412Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135876
GnomAD4 exome AF: 0.0000677 AC: 99AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.0000550 AC XY: 40AN XY: 727234
GnomAD4 genome AF: 0.000611 AC: 93AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.000671 AC XY: 50AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at