1-184099374-C-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664793.1(ENSG00000286655):n.68-16489G>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.306 in 151,802 control chromosomes in the GnomAD database, including 7,911 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664793.1 | n.68-16489G>T | intron_variant, non_coding_transcript_variant | |||||||
TSEN15 | ENST00000643916.1 | c.*116-13491C>A | intron_variant, NMD_transcript_variant | ||||||
TSEN15 | ENST00000644592.1 | c.354-20346C>A | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.306 AC: 46410AN: 151684Hom.: 7911 Cov.: 31
GnomAD4 genome AF: 0.306 AC: 46426AN: 151802Hom.: 7911 Cov.: 31 AF XY: 0.310 AC XY: 22967AN XY: 74180
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at