rs1553174146
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020631.6(PLEKHG5):āc.1346T>Gā(p.Met449Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000374 in 1,605,516 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_020631.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLEKHG5 | NM_020631.6 | c.1346T>G | p.Met449Arg | missense_variant | 13/21 | ENST00000377728.8 | NP_065682.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLEKHG5 | ENST00000377728.8 | c.1346T>G | p.Met449Arg | missense_variant | 13/21 | 2 | NM_020631.6 | ENSP00000366957 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151762Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1453754Hom.: 0 Cov.: 35 AF XY: 0.00000415 AC XY: 3AN XY: 722788
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151762Hom.: 0 Cov.: 33 AF XY: 0.0000270 AC XY: 2AN XY: 74126
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at