chr8-80355920-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000656157.1(ENSG00000253238):n.273+66918T>C 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 0.613 in 151,980 control chromosomes in the GnomAD database, including 28,886 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000656157.1 | n.273+66918T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000644465.1 | n.253+66918T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000656811.1 | n.252-46816T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000662273.1 | n.370+66918T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.613 AC: 93089AN: 151862Hom.: 28872 Cov.: 31
GnomAD4 genome AF: 0.613 AC: 93145AN: 151980Hom.: 28886 Cov.: 31 AF XY: 0.611 AC XY: 45407AN XY: 74264
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at