2-233281403-T-C

Variant names:

• chr2-233281403-T-C
• rs7587633
• NM_030803.7:c.1131+228T>C

Variant summary

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

The NM_030803.7(ATG16L1):​c.1131+228T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.693 in 152,052 control chromosomes in the GnomAD database, including 36,845 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 0.69 (36845 hom., cov: 32)
• Consequence: ATG16L1 NM_030803.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.39
• Publications: 7 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=-1.06).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.764 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ATG16L1	NM_030803.7	c.1131+228T>C		intron_variant	Intron 11 of 17	ENST00000392017.9	NP_110430.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ATG16L1	ENST00000392017.9	c.1131+228T>C		intron_variant	Intron 11 of 17	1	NM_030803.7	ENSP00000375872.4

Frequencies

GnomAD3 genomes AF: 0.694 AC: 105371 AN: 151932 Hom.: 36828 Cov.: 32

Gnomad AFR AF: 0.722

Gnomad AMI AF: 0.673

Gnomad AMR AF: 0.573

Gnomad ASJ AF: 0.754

Gnomad EAS AF: 0.455

Gnomad SAS AF: 0.785

Gnomad FIN AF: 0.674

Gnomad MID AF: 0.640

Gnomad NFE AF: 0.716

Gnomad OTH AF: 0.669

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

GnomAD4 genome AF: 0.693 AC: 105425 AN: 152052 Hom.: 36845 Cov.: 32 AF XY: 0.690 AC XY: 51291 AN XY: 74328

African (AFR) AF: 0.722 AC: 29916 AN: 41458

American (AMR) AF: 0.573 AC: 8750 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.754 AC: 2616 AN: 3468

East Asian (EAS) AF: 0.455 AC: 2348 AN: 5166

South Asian (SAS) AF: 0.785 AC: 3782 AN: 4820

European-Finnish (FIN) AF: 0.674 AC: 7132 AN: 10574

Middle Eastern (MID) AF: 0.651 AC: 190 AN: 292

European-Non Finnish (NFE) AF: 0.716 AC: 48675 AN: 67978

Other (OTH) AF: 0.665 AC: 1402 AN: 2108

Alfa AF: 0.606 Hom.: 3981

Bravo AF: 0.683

Asia WGS AF: 0.600 AC: 2090 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.15
DANN	Benign	0.32
PhyloP100		-1.4
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: rs7587633; hg19: chr2-234190049;