rs145201706
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_014795.4(ZEB2):c.1840C>T(p.Leu614Leu) variant causes a synonymous change. The variant allele was found at a frequency of 0.000677 in 1,614,176 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_014795.4 synonymous
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: 0.000394 AC: 60AN: 152188Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000160 AC: 40AN: 250522Hom.: 0 AF XY: 0.000163 AC XY: 22AN XY: 135346
GnomAD4 exome AF: 0.000706 AC: 1032AN: 1461870Hom.: 19 Cov.: 32 AF XY: 0.000705 AC XY: 513AN XY: 727234
GnomAD4 genome AF: 0.000394 AC: 60AN: 152306Hom.: 1 Cov.: 32 AF XY: 0.000389 AC XY: 29AN XY: 74478
ClinVar
Submissions by phenotype
Mowat-Wilson syndrome Benign:3
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not specified Benign:1
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. -
Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at