rs13196329
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001286474.2(TSBP1):c.218-1925T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0264 in 152,292 control chromosomes in the GnomAD database, including 79 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 0.026 ( 79 hom., cov: 32)
Consequence
TSBP1
NM_001286474.2 intron
NM_001286474.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.611
Genes affected
TSBP1 (HGNC:13922): (testis expressed basic protein 1) Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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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=-0.9).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0264 (4022/152292) while in subpopulation AFR AF= 0.0483 (2007/41562). AF 95% confidence interval is 0.0465. There are 79 homozygotes in gnomad4. There are 1988 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 78 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TSBP1 | NM_001286474.2 | c.218-1925T>G | intron_variant | ENST00000533191.6 | |||
TSBP1-AS1 | NR_136245.1 | n.243-8186A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TSBP1 | ENST00000533191.6 | c.218-1925T>G | intron_variant | 1 | NM_001286474.2 | A2 | |||
TSBP1-AS1 | ENST00000645134.1 | n.88-32620A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0264 AC: 4023AN: 152174Hom.: 78 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0264 AC: 4022AN: 152292Hom.: 79 Cov.: 32 AF XY: 0.0267 AC XY: 1988AN XY: 74468
GnomAD4 genome
?
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4022
AN:
152292
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32
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1988
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74468
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154
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
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