2-233258588-A-G

Variant names:

• chr2-233258588-A-G
• rs6431660
• NM_030803.7:c.209+2393A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_030803.7(ATG16L1):​c.209+2393A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.411 in 152,172 control chromosomes in the GnomAD database, including 14,108 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 0.41 (14108 hom., cov: 33)
• Consequence: ATG16L1 NM_030803.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29
• Publications: 15 publications found

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]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.514 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_030803.7. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ATG16L1	NM_030803.7	MANE Select	c.209+2393A>G		intron	N/A	NP_110430.5
	ATG16L1	NM_001363742.2		c.209+2393A>G		intron	N/A	NP_001350671.1
	ATG16L1	NM_017974.4		c.209+2393A>G		intron	N/A	NP_060444.3

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ATG16L1	ENST00000392017.9	TSL:1 MANE Select	c.209+2393A>G		intron	N/A	ENSP00000375872.4
	ATG16L1	ENST00000392020.8	TSL:1	c.209+2393A>G		intron	N/A	ENSP00000375875.4
	ATG16L1	ENST00000347464.9	TSL:1	c.209+2393A>G		intron	N/A	ENSP00000318259.6

Frequencies

GnomAD3 genomes AF: 0.412 AC: 62579 AN: 152056 Hom.: 14113 Cov.: 33

Gnomad AFR AF: 0.235

Gnomad AMI AF: 0.525

Gnomad AMR AF: 0.348

Gnomad ASJ AF: 0.595

Gnomad EAS AF: 0.315

Gnomad SAS AF: 0.508

Gnomad FIN AF: 0.437

Gnomad MID AF: 0.491

Gnomad NFE AF: 0.518

Gnomad OTH AF: 0.424

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.411 AC: 62563 AN: 152172 Hom.: 14108 Cov.: 33 AF XY: 0.407 AC XY: 30255 AN XY: 74390

African (AFR) AF: 0.235 AC: 9736 AN: 41512

American (AMR) AF: 0.347 AC: 5316 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.595 AC: 2064 AN: 3470

East Asian (EAS) AF: 0.314 AC: 1632 AN: 5194

South Asian (SAS) AF: 0.508 AC: 2448 AN: 4818

European-Finnish (FIN) AF: 0.437 AC: 4617 AN: 10570

Middle Eastern (MID) AF: 0.497 AC: 146 AN: 294

European-Non Finnish (NFE) AF: 0.518 AC: 35241 AN: 67986

Other (OTH) AF: 0.419 AC: 884 AN: 2110

Alfa AF: 0.395 Hom.: 2868

Bravo AF: 0.395

Asia WGS AF: 0.355 AC: 1237 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.43
DANN	Benign	0.52
PhyloP100		-1.3
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs6431660; hg19: chr2-234167234;