chr22-44732311-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_181333.4(PRR5):c.475A>G(p.Ser159Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S159N) has been classified as Uncertain significance.
Frequency
Consequence
NM_181333.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRR5 | NM_181333.4 | c.475A>G | p.Ser159Gly | missense_variant | 6/8 | ENST00000336985.11 | |
PRR5-ARHGAP8 | NM_181334.6 | c.322+5677A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRR5 | ENST00000336985.11 | c.475A>G | p.Ser159Gly | missense_variant | 6/8 | 1 | NM_181333.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 21, 2021 | The c.544A>G (p.S182G) alteration is located in exon 8 (coding exon 7) of the PRR5 gene. This alteration results from a A to G substitution at nucleotide position 544, causing the serine (S) at amino acid position 182 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.