6-158767438-T-G
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Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_001111077.2(EZR):āc.1419A>Cā(p.Pro473=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Genomes: š 0.00024 ( 0 hom., cov: 31)
Exomes š: 0.0015 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
EZR
NM_001111077.2 synonymous
NM_001111077.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -8.03
Genes affected
EZR (HGNC:12691): (ezrin) The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -7 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.73).
BP6
Variant 6-158767438-T-G is Benign according to our data. Variant chr6-158767438-T-G is described in ClinVar as [Likely_benign]. Clinvar id is 435106.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-8.03 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EZR | NM_001111077.2 | c.1419A>C | p.Pro473= | synonymous_variant | 13/14 | ENST00000367075.4 | NP_001104547.1 | |
EZR | NM_003379.5 | c.1419A>C | p.Pro473= | synonymous_variant | 12/13 | NP_003370.2 | ||
EZR | XM_011536110.2 | c.1011A>C | p.Pro337= | synonymous_variant | 9/10 | XP_011534412.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EZR | ENST00000367075.4 | c.1419A>C | p.Pro473= | synonymous_variant | 13/14 | 1 | NM_001111077.2 | ENSP00000356042 | P1 | |
EZR | ENST00000337147.11 | c.1419A>C | p.Pro473= | synonymous_variant | 12/13 | 1 | ENSP00000338934 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 33AN: 137854Hom.: 0 Cov.: 31 FAILED QC
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GnomAD3 exomes AF: 0.00300 AC: 699AN: 233284Hom.: 0 AF XY: 0.00272 AC XY: 346AN XY: 127058
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00145 AC: 1581AN: 1090228Hom.: 0 Cov.: 38 AF XY: 0.00153 AC XY: 838AN XY: 546406
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GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000239 AC: 33AN: 137952Hom.: 0 Cov.: 31 AF XY: 0.000224 AC XY: 15AN XY: 66866
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jan 05, 2016 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at