chr6-158769377-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The NM_001111077.2(EZR):c.1293G>A(p.Leu431=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000686 in 1,456,842 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L431L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001111077.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EZR | NM_001111077.2 | c.1293G>A | p.Leu431= | synonymous_variant | 12/14 | ENST00000367075.4 | |
EZR | NM_003379.5 | c.1293G>A | p.Leu431= | synonymous_variant | 11/13 | ||
EZR | XM_011536110.2 | c.885G>A | p.Leu295= | synonymous_variant | 8/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EZR | ENST00000367075.4 | c.1293G>A | p.Leu431= | synonymous_variant | 12/14 | 1 | NM_001111077.2 | P1 | |
EZR | ENST00000337147.11 | c.1293G>A | p.Leu431= | synonymous_variant | 11/13 | 1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247920Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134392
GnomAD4 exome AF: 0.00000686 AC: 10AN: 1456842Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 725052
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at