1-204241400-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014935.5(PLEKHA6):c.2384G>A(p.Gly795Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,611,038 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014935.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLEKHA6 | NM_014935.5 | c.2384G>A | p.Gly795Glu | missense_variant | 17/23 | ENST00000272203.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLEKHA6 | ENST00000272203.8 | c.2384G>A | p.Gly795Glu | missense_variant | 17/23 | 1 | NM_014935.5 | P2 | |
PLEKHA6 | ENST00000637508.1 | c.2756G>A | p.Gly919Glu | missense_variant | 21/27 | 5 | A2 | ||
PLEKHA6 | ENST00000414478.1 | c.2444G>A | p.Gly815Glu | missense_variant | 17/23 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 244700Hom.: 0 AF XY: 0.00000756 AC XY: 1AN XY: 132354
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1458900Hom.: 0 Cov.: 30 AF XY: 0.0000152 AC XY: 11AN XY: 725578
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 05, 2022 | The c.2384G>A (p.G795E) alteration is located in exon 17 (coding exon 15) of the PLEKHA6 gene. This alteration results from a G to A substitution at nucleotide position 2384, causing the glycine (G) at amino acid position 795 to be replaced by a glutamic acid (E). 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