chr7-22868624-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000452069.1(ENSG00000226329):n.1040-676C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.589 in 151,846 control chromosomes in the GnomAD database, including 27,744 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
ENST00000452069.1 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 |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000226329 | ENST00000452069.1 | n.1040-676C>T | intron_variant | Intron 7 of 9 | 6 | |||||
SNHG26 | ENST00000656301.2 | n.554-3870G>A | intron_variant | Intron 5 of 5 | ||||||
SNHG26 | ENST00000685098.3 | n.199-3870G>A | intron_variant | Intron 4 of 4 |
Frequencies
GnomAD3 genomes AF: 0.589 AC: 89415AN: 151728Hom.: 27700 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.589 AC: 89513AN: 151846Hom.: 27744 Cov.: 31 AF XY: 0.593 AC XY: 44036AN XY: 74238 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at