8-88361098-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000665922.1(ENSG00000253553):n.193+32046T>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 0.203 in 151,706 control chromosomes in the GnomAD database, including 3,259 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105375630 | XR_001745653.3 | n.224+32001T>G | intron_variant, non_coding_transcript_variant | |||||
LOC105375630 | XR_007060996.1 | n.179+32046T>G | intron_variant, non_coding_transcript_variant | |||||
LOC105375630 | XR_007060997.1 | n.123+32102T>G | intron_variant, non_coding_transcript_variant | |||||
LOC105375630 | XR_007060998.1 | n.179+32046T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000665922.1 | n.193+32046T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.203 AC: 30824AN: 151590Hom.: 3245 Cov.: 31
GnomAD4 genome AF: 0.203 AC: 30871AN: 151706Hom.: 3259 Cov.: 31 AF XY: 0.202 AC XY: 14967AN XY: 74182
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at