chr10-122424215-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001001974.4(PLEKHA1):āc.698G>Cā(p.Arg233Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R233G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001001974.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLEKHA1 | NM_001001974.4 | c.698G>C | p.Arg233Pro | missense_variant | 9/12 | ENST00000368990.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLEKHA1 | ENST00000368990.8 | c.698G>C | p.Arg233Pro | missense_variant | 9/12 | 1 | NM_001001974.4 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 123744Hom.: 0 Cov.: 23 FAILED QC
GnomAD3 exomes AF: 0.00000451 AC: 1AN: 221678Hom.: 0 AF XY: 0.00000830 AC XY: 1AN XY: 120518
GnomAD4 exome Cov.: 34
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 123744Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 57458
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at