rs11605818
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000534905.5(ATG16L2):c.*21+6431A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0165 in 152,360 control chromosomes in the GnomAD database, including 28 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 0.017 ( 28 hom., cov: 32)
Consequence
ATG16L2
ENST00000534905.5 intron
ENST00000534905.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0240
Genes affected
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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=-0.84).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0165 (2518/152360) while in subpopulation NFE AF= 0.0265 (1802/68028). AF 95% confidence interval is 0.0255. There are 28 homozygotes in gnomad4. There are 1154 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 28 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATG16L2 | XM_005274376.6 | c.1772+6223A>G | intron_variant | ||||
ATG16L2 | XM_047427840.1 | c.1658+6223A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATG16L2 | ENST00000534905.5 | c.*21+6431A>G | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0165 AC: 2516AN: 152242Hom.: 28 Cov.: 32
GnomAD3 genomes
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2516
AN:
152242
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Cov.:
32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0165 AC: 2518AN: 152360Hom.: 28 Cov.: 32 AF XY: 0.0155 AC XY: 1154AN XY: 74504
GnomAD4 genome
?
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AC:
2518
AN:
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32
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1154
AN XY:
74504
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at