chr16-2855696-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_022119.4(PRSS22):c.437G>A(p.Arg146His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000112 in 1,614,222 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022119.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152220Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251436Hom.: 1 AF XY: 0.000132 AC XY: 18AN XY: 135900
GnomAD4 exome AF: 0.000114 AC: 166AN: 1461884Hom.: 1 Cov.: 32 AF XY: 0.000128 AC XY: 93AN XY: 727244
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152338Hom.: 1 Cov.: 31 AF XY: 0.0000940 AC XY: 7AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.437G>A (p.R146H) alteration is located in exon 4 (coding exon 4) of the PRSS22 gene. This alteration results from a G to A substitution at nucleotide position 437, causing the arginine (R) at amino acid position 146 to be replaced by a histidine (H). 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