chr19-39415048-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022835.3(PLEKHG2):āc.166A>Gā(p.Ser56Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000208 in 1,445,544 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022835.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLEKHG2 | NM_022835.3 | c.166A>G | p.Ser56Gly | missense_variant | Exon 3 of 19 | ENST00000425673.6 | NP_073746.2 | |
PLEKHG2 | NM_001351694.2 | c.166A>G | p.Ser56Gly | missense_variant | Exon 3 of 18 | NP_001338623.1 | ||
PLEKHG2 | NM_001351693.2 | c.110-121A>G | intron_variant | Intron 2 of 19 | NP_001338622.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000208 AC: 3AN: 1445544Hom.: 0 Cov.: 31 AF XY: 0.00000279 AC XY: 2AN XY: 717834
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.166A>G (p.S56G) alteration is located in exon 3 (coding exon 2) of the PLEKHG2 gene. This alteration results from a A to G substitution at nucleotide position 166, causing the serine (S) at amino acid position 56 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.