chr22-19304923-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664918.1(ENSG00000287146):n.362+12593T>G 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 0.291 in 152,006 control chromosomes in the GnomAD database, including 7,121 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 |
---|---|---|---|---|---|---|---|
LOC105372859 | XR_938002.3 | n.384+12593T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105372859 | XR_938000.3 | n.384+12593T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105372859 | XR_938001.3 | n.384+12593T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664918.1 | n.362+12593T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.291 AC: 44140AN: 151888Hom.: 7113 Cov.: 31
GnomAD4 genome AF: 0.291 AC: 44172AN: 152006Hom.: 7121 Cov.: 31 AF XY: 0.287 AC XY: 21311AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at