rs142087930
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Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_152309.3(PIK3AP1):āc.1551T>Cā(p.Asp517=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000736 in 1,614,208 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 Likely benign (ā ā ).
Frequency
Genomes: š 0.00047 ( 0 hom., cov: 32)
Exomes š: 0.00076 ( 0 hom. )
Consequence
PIK3AP1
NM_152309.3 synonymous
NM_152309.3 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.262
Genes affected
PIK3AP1 (HGNC:30034): (phosphoinositide-3-kinase adaptor protein 1) Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in regulation of inflammatory response; regulation of signal transduction; and toll-like receptor signaling pathway. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -17 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
?
Variant 10-96626826-A-G is Benign according to our data. Variant chr10-96626826-A-G is described in ClinVar as [Likely_benign]. Clinvar id is 541760.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
?
Synonymous conserved (PhyloP=-0.262 with no splicing effect.
BS2
?
High AC in GnomAd4 at 72 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIK3AP1 | NM_152309.3 | c.1551T>C | p.Asp517= | synonymous_variant | 10/17 | ENST00000339364.10 | |
PIK3AP1 | XM_011539248.2 | c.1551T>C | p.Asp517= | synonymous_variant | 10/16 | ||
PIK3AP1 | XM_005269499.2 | c.1017T>C | p.Asp339= | synonymous_variant | 9/16 | ||
PIK3AP1 | XM_047424566.1 | c.1017T>C | p.Asp339= | synonymous_variant | 11/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PIK3AP1 | ENST00000339364.10 | c.1551T>C | p.Asp517= | synonymous_variant | 10/17 | 1 | NM_152309.3 | P1 | |
PIK3AP1 | ENST00000371109.3 | c.348T>C | p.Asp116= | synonymous_variant | 3/10 | 1 | |||
PIK3AP1 | ENST00000371110.6 | c.1017T>C | p.Asp339= | synonymous_variant | 9/16 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000473 AC: 72AN: 152262Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.000513 AC: 129AN: 251364Hom.: 0 AF XY: 0.000515 AC XY: 70AN XY: 135846
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GnomAD4 exome AF: 0.000763 AC: 1116AN: 1461828Hom.: 0 Cov.: 34 AF XY: 0.000725 AC XY: 527AN XY: 727224
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GnomAD4 genome ? AF: 0.000473 AC: 72AN: 152380Hom.: 0 Cov.: 32 AF XY: 0.000268 AC XY: 20AN XY: 74518
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
Infantile spasms Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 02, 2024 | - - |
PIK3AP1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 15, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at