chr17-15396028-A-G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000580422.1(ENSG00000266667):n.315-13907T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.935 in 152,050 control chromosomes in the GnomAD database, including 66,737 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
Consequence
ENST00000580422.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000266667 | ENST00000580422.1 | n.315-13907T>C | intron_variant | Intron 2 of 3 | 5 | |||||
ENSG00000266667 | ENST00000762561.1 | n.325-13395T>C | intron_variant | Intron 2 of 2 | ||||||
ENSG00000266667 | ENST00000762562.1 | n.292-13504T>C | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.936 AC: 142138AN: 151932Hom.: 66696 Cov.: 30 show subpopulations
GnomAD4 genome AF: 0.935 AC: 142235AN: 152050Hom.: 66737 Cov.: 30 AF XY: 0.935 AC XY: 69497AN XY: 74316 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at