3-12516437-AC-A
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_025265.4(TSEN2):c.910-173delC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0928 in 126,894 control chromosomes in the GnomAD database, including 590 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.093 ( 590 hom., cov: 26)
Consequence
TSEN2
NM_025265.4 intron
NM_025265.4 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: -2.92
Genes affected
TSEN2 (HGNC:28422): (tRNA splicing endonuclease subunit 2) This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 3-12516437-AC-A is Benign according to our data. Variant chr3-12516437-AC-A is described in ClinVar as [Benign]. Clinvar id is 1174286.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.121 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TSEN2 | NM_025265.4 | c.910-173delC | intron_variant | Intron 6 of 11 | ENST00000284995.11 | NP_079541.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0929 AC: 11778AN: 126788Hom.: 590 Cov.: 26
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0928 AC: 11775AN: 126894Hom.: 590 Cov.: 26 AF XY: 0.0940 AC XY: 5699AN XY: 60652
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Jun 28, 2018
GeneDx
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
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Computational scores
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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