11-31509847-C-G
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Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_019040.5(ELP4):āc.63C>Gā(p.Ala21=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000805 in 1,614,184 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Genomes: š 0.000053 ( 0 hom., cov: 32)
Exomes š: 0.000083 ( 0 hom. )
Consequence
ELP4
NM_019040.5 synonymous
NM_019040.5 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.32
Genes affected
ELP4 (HGNC:1171): (elongator acetyltransferase complex subunit 4) This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.71).
BP6
Variant 11-31509847-C-G is Benign according to our data. Variant chr11-31509847-C-G is described in ClinVar as [Likely_benign]. Clinvar id is 2887867.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-1.32 with no splicing effect.
BS2
High AC in GnomAd4 at 8 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ELP4 | NM_019040.5 | c.63C>G | p.Ala21= | synonymous_variant | 1/10 | ENST00000640961.2 | |
ELP4 | NM_001288726.2 | c.63C>G | p.Ala21= | synonymous_variant | 1/12 | ||
ELP4 | NM_001288725.2 | c.63C>G | p.Ala21= | synonymous_variant | 1/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ELP4 | ENST00000640961.2 | c.63C>G | p.Ala21= | synonymous_variant | 1/10 | 1 | NM_019040.5 | P3 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152214Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000922 AC: 23AN: 249468Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135354
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GnomAD4 exome AF: 0.0000835 AC: 122AN: 1461852Hom.: 0 Cov.: 31 AF XY: 0.0000784 AC XY: 57AN XY: 727216
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GnomAD4 genome AF: 0.0000525 AC: 8AN: 152332Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74498
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Mar 07, 2023 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at