chr6-158767435-T-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001111077.2(EZR):c.1422A>G(p.Pro474=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. P474P) has been classified as Likely benign.
Frequency
Consequence
NM_001111077.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EZR | NM_001111077.2 | c.1422A>G | p.Pro474= | synonymous_variant | 13/14 | ENST00000367075.4 | |
EZR | NM_003379.5 | c.1422A>G | p.Pro474= | synonymous_variant | 12/13 | ||
EZR | XM_011536110.2 | c.1014A>G | p.Pro338= | synonymous_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EZR | ENST00000367075.4 | c.1422A>G | p.Pro474= | synonymous_variant | 13/14 | 1 | NM_001111077.2 | P1 | |
EZR | ENST00000337147.11 | c.1422A>G | p.Pro474= | synonymous_variant | 12/13 | 1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 42
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.