15-78628996-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000750.5(CHRNB4):c.1309C>T(p.His437Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000719 in 1,613,928 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000750.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251112Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135710
GnomAD4 exome AF: 0.0000773 AC: 113AN: 1461748Hom.: 0 Cov.: 31 AF XY: 0.0000633 AC XY: 46AN XY: 727142
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1309C>T (p.H437Y) alteration is located in exon 5 (coding exon 5) of the CHRNB4 gene. This alteration results from a C to T substitution at nucleotide position 1309, causing the histidine (H) at amino acid position 437 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at