rs741780
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000426677.7(TOMM40):c.844-34T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.45 in 1,613,054 control chromosomes in the GnomAD database, including 166,521 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.51 ( 20578 hom., cov: 33)
Exomes 𝑓: 0.44 ( 145943 hom. )
Consequence
TOMM40
ENST00000426677.7 intron
ENST00000426677.7 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -3.84
Genes affected
TOMM40 (HGNC:18001): (translocase of outer mitochondrial membrane 40) The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.638 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TOMM40 | NM_001128917.2 | c.844-34T>C | intron_variant | ENST00000426677.7 | NP_001122389.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TOMM40 | ENST00000426677.7 | c.844-34T>C | intron_variant | 1 | NM_001128917.2 | ENSP00000410339 | P1 |
Frequencies
GnomAD3 genomes AF: 0.512 AC: 77823AN: 152052Hom.: 20561 Cov.: 33
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GnomAD3 exomes AF: 0.470 AC: 117121AN: 249232Hom.: 28365 AF XY: 0.461 AC XY: 62116AN XY: 134774
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GnomAD4 exome AF: 0.443 AC: 647254AN: 1460886Hom.: 145943 Cov.: 37 AF XY: 0.441 AC XY: 320507AN XY: 726730
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GnomAD4 genome AF: 0.512 AC: 77890AN: 152168Hom.: 20578 Cov.: 33 AF XY: 0.512 AC XY: 38085AN XY: 74382
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
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