1-111315392-G-T
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 1P and 4B. PP3BS2
The NM_201653.4(CHIA):c.437G>T(p.Gly146Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,614,002 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_201653.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.0000119 AC: 3AN: 251376 AF XY: 0.0000147 show subpopulations
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461838Hom.: 2 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 727228 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74358 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.437G>T (p.G146V) alteration is located in exon 6 (coding exon 5) of the CHIA gene. This alteration results from a G to T substitution at nucleotide position 437, causing the glycine (G) at amino acid position 146 to be replaced by a valine (V). 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