chr15-78688659-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000569846.1(ENSG00000290426):n.367-4023T>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 0.0377 in 152,184 control chromosomes in the GnomAD database, including 756 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000569846.1 | n.367-4023T>C | intron_variant, non_coding_transcript_variant | 4 | ||||||
CHRNB4 | ENST00000560511.5 | n.228+19329A>G | intron_variant, non_coding_transcript_variant | 3 | |||||
CHRNB4 | ENST00000560868.1 | n.66-1260A>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0376 AC: 5719AN: 152066Hom.: 751 Cov.: 31
GnomAD4 genome AF: 0.0377 AC: 5737AN: 152184Hom.: 756 Cov.: 31 AF XY: 0.0427 AC XY: 3178AN XY: 74398
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at