15-78660789-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000569846.1(ENSG00000290426):n.146C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.898 in 233,418 control chromosomes in the GnomAD database, including 94,295 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 |
---|---|---|---|---|---|---|---|
CHRNB4 | XM_011521186.3 | c.-597G>A | 5_prime_UTR_variant | 1/10 | |||
CHRNB4 | XM_011521187.3 | c.-503G>A | 5_prime_UTR_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000569846.1 | n.146C>T | non_coding_transcript_exon_variant | 1/4 | 4 | |||||
CHRNB4 | ENST00000560511.5 | n.229-5126G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.892 AC: 135680AN: 152130Hom.: 60677 Cov.: 32
GnomAD4 exome AF: 0.908 AC: 73738AN: 81168Hom.: 33592 Cov.: 0 AF XY: 0.911 AC XY: 38504AN XY: 42266
GnomAD4 genome ? AF: 0.892 AC: 135765AN: 152250Hom.: 60703 Cov.: 32 AF XY: 0.889 AC XY: 66173AN XY: 74434
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at