17-2613678-G-GAAGC
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_000430.4(PAFAH1B1):c.-191+19673_-191+19676dup variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00116 in 283,554 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0021 ( 1 hom., cov: 32)
Exomes 𝑓: 0.00011 ( 0 hom. )
Consequence
PAFAH1B1
NM_000430.4 intron
NM_000430.4 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.689
Genes affected
PAFAH1B1 (HGNC:8574): (platelet activating factor acetylhydrolase 1b regulatory subunit 1) This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
?
Variant 17-2613678-G-GAAGC is Benign according to our data. Variant chr17-2613678-G-GAAGC is described in ClinVar as [Benign]. Clinvar id is 2647221.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00205 (313/152338) while in subpopulation AFR AF= 0.00726 (302/41586). AF 95% confidence interval is 0.00659. There are 1 homozygotes in gnomad4. There are 160 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High AC in GnomAd at 313 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PAFAH1B1 | NM_000430.4 | c.-191+19673_-191+19676dup | intron_variant | ENST00000397195.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PAFAH1B1 | ENST00000397195.10 | c.-191+19673_-191+19676dup | intron_variant | 1 | NM_000430.4 | P1 | |||
SAMD11P1 | ENST00000571429.2 | n.266_267insGCTT | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.00206 AC: 313AN: 152220Hom.: 1 Cov.: 32
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GnomAD4 exome AF: 0.000114 AC: 15AN: 131216Hom.: 0 Cov.: 0 AF XY: 0.0000986 AC XY: 7AN XY: 71000
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GnomAD4 genome ? AF: 0.00205 AC: 313AN: 152338Hom.: 1 Cov.: 32 AF XY: 0.00215 AC XY: 160AN XY: 74496
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2022 | PAFAH1B1: BS1, BS2 - |
Computational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at