15-43558827-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001394395.1(PPIP5K1):c.3524G>A(p.Arg1175His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000107 in 1,613,930 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394395.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPIP5K1 | NM_001394395.1 | c.3524G>A | p.Arg1175His | missense_variant | 30/32 | ENST00000420765.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPIP5K1 | ENST00000420765.6 | c.3524G>A | p.Arg1175His | missense_variant | 30/32 | 5 | NM_001394395.1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.000289 AC: 44AN: 152164Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251388Hom.: 1 AF XY: 0.0000883 AC XY: 12AN XY: 135866
GnomAD4 exome AF: 0.0000882 AC: 129AN: 1461766Hom.: 3 Cov.: 31 AF XY: 0.0000715 AC XY: 52AN XY: 727182
GnomAD4 genome AF: 0.000289 AC: 44AN: 152164Hom.: 0 Cov.: 31 AF XY: 0.000229 AC XY: 17AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.3353G>A (p.R1118H) alteration is located in exon 29 (coding exon 27) of the PPIP5K1 gene. This alteration results from a G to A substitution at nucleotide position 3353, causing the arginine (R) at amino acid position 1118 to be replaced by a histidine (H). 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