8-143580606-G-A
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Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001130053.5(EEF1D):c.1610C>T(p.Ala537Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,613,728 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.000053 ( 0 hom., cov: 33)
Exomes 𝑓: 0.000025 ( 0 hom. )
Consequence
EEF1D
NM_001130053.5 missense
NM_001130053.5 missense
Scores
4
9
6
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 9.82
Genes affected
EEF1D (HGNC:3211): (eukaryotic translation elongation factor 1 delta) This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EEF1D | NM_001130053.5 | c.1610C>T | p.Ala537Val | missense_variant | 8/10 | ENST00000618139.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EEF1D | ENST00000618139.4 | c.1610C>T | p.Ala537Val | missense_variant | 8/10 | 5 | NM_001130053.5 | ||
ENST00000529247.1 | n.367G>A | non_coding_transcript_exon_variant | 2/2 | 3 | |||||
ENST00000623257.1 | n.2249G>A | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152180Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251216Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135808
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GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461430Hom.: 0 Cov.: 32 AF XY: 0.0000261 AC XY: 19AN XY: 727050
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GnomAD4 genome AF: 0.0000525 AC: 8AN: 152298Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74470
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Uncertain
CADD
Pathogenic
DANN
Pathogenic
DEOGEN2
Benign
T;T;.;T;T;.;.;.;T;T;.;.;.;T;.;T;T;T
Eigen
Pathogenic
Eigen_PC
Pathogenic
FATHMM_MKL
Uncertain
D
LIST_S2
Pathogenic
D;.;D;D;D;D;.;.;.;.;D;D;D;D;D;.;D;D
M_CAP
Benign
D
MetaRNN
Uncertain
D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D
MetaSVM
Uncertain
T
MutationAssessor
Uncertain
M;M;.;.;.;.;.;.;M;M;.;.;.;.;.;.;.;.
MutationTaster
Benign
D;D;D;D;D;D;D;D;D;D;D;D
PrimateAI
Benign
T
PROVEAN
Uncertain
D;D;D;D;D;D;D;D;D;D;D;D;.;D;D;D;D;D
REVEL
Uncertain
Sift
Uncertain
D;D;D;T;D;D;D;D;D;D;D;D;.;D;D;D;D;D
Sift4G
Uncertain
D;D;D;T;D;D;D;D;D;D;D;D;D;.;D;D;D;.
Polyphen
D;D;D;.;D;.;D;.;D;D;.;.;.;.;.;.;.;.
Vest4
MutPred
0.52
.;.;.;.;Loss of glycosylation at K585 (P = 0.2339);.;.;.;.;.;.;.;.;.;.;.;.;.;
MVP
MPC
0.38
ClinPred
D
GERP RS
RBP_binding_hub_radar
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Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at