22-30579294-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014303.4(PES1):c.1364A>G(p.Asn455Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000875 in 1,600,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014303.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PES1 | NM_014303.4 | c.1364A>G | p.Asn455Ser | missense_variant | 13/15 | ENST00000354694.12 | |
PES1 | NM_001243225.2 | c.1349A>G | p.Asn450Ser | missense_variant | 13/15 | ||
PES1 | NM_001282327.1 | c.947A>G | p.Asn316Ser | missense_variant | 15/17 | ||
PES1 | NM_001282328.1 | c.947A>G | p.Asn316Ser | missense_variant | 15/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PES1 | ENST00000354694.12 | c.1364A>G | p.Asn455Ser | missense_variant | 13/15 | 1 | NM_014303.4 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000293 AC: 7AN: 238688Hom.: 0 AF XY: 0.0000308 AC XY: 4AN XY: 130032
GnomAD4 exome AF: 0.00000760 AC: 11AN: 1448138Hom.: 0 Cov.: 32 AF XY: 0.00000694 AC XY: 5AN XY: 720834
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 11, 2023 | The c.1364A>G (p.N455S) alteration is located in exon 13 (coding exon 13) of the PES1 gene. This alteration results from a A to G substitution at nucleotide position 1364, causing the asparagine (N) at amino acid position 455 to be replaced by a serine (S). 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