rs2241879
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000392017.9(ATG16L1):c.954+44G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.488 in 1,433,360 control chromosomes in the GnomAD database, including 175,758 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.44 ( 15153 hom., cov: 32)
Exomes 𝑓: 0.49 ( 160605 hom. )
Consequence
ATG16L1
ENST00000392017.9 intron
ENST00000392017.9 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.08
Genes affected
ATG16L1 (HGNC:21498): (autophagy related 16 like 1) The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.514 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATG16L1 | NM_030803.7 | c.954+44G>A | intron_variant | ENST00000392017.9 | NP_110430.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATG16L1 | ENST00000392017.9 | c.954+44G>A | intron_variant | 1 | NM_030803.7 | ENSP00000375872 | P3 |
Frequencies
GnomAD3 genomes AF: 0.437 AC: 66319AN: 151880Hom.: 15154 Cov.: 32
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GnomAD3 exomes AF: 0.450 AC: 108662AN: 241340Hom.: 26007 AF XY: 0.466 AC XY: 60814AN XY: 130526
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GnomAD4 exome AF: 0.494 AC: 632481AN: 1281362Hom.: 160605 Cov.: 17 AF XY: 0.497 AC XY: 320436AN XY: 644274
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GnomAD4 genome AF: 0.436 AC: 66317AN: 151998Hom.: 15153 Cov.: 32 AF XY: 0.431 AC XY: 32025AN XY: 74284
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at