rs13005285

Variant names:

• chr2-233286311-T-G
• rs13005285
• NM_030803.7:c.1204-3543T>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.1204-3543T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.559 in 152,026 control chromosomes in the GnomAD database, including 24,870 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 0.56 (24870 hom., cov: 31)
• Consequence: ATG16L1 NM_030803.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.598
• Publications: 11 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=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.665 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

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ATG16L1	NM_030803.7	MANE Select	c.1204-3543T>G		intron	N/A	NP_110430.5
	ATG16L1	NM_001363742.2		c.1255-3543T>G		intron	N/A	NP_001350671.1	E7EVC7
	ATG16L1	NM_017974.4		c.1147-3543T>G		intron	N/A	NP_060444.3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ATG16L1	ENST00000392017.9	TSL:1 MANE Select	c.1204-3543T>G		intron	N/A	ENSP00000375872.4	Q676U5-1
	ATG16L1	ENST00000392020.8	TSL:1	c.1147-3543T>G		intron	N/A	ENSP00000375875.4	Q676U5-2
	ATG16L1	ENST00000347464.9	TSL:1	c.715-3543T>G		intron	N/A	ENSP00000318259.6	Q676U5-5

Frequencies

GnomAD3 genomes AF: 0.559 AC: 84897 AN: 151908 Hom.: 24865 Cov.: 31

Gnomad AFR AF: 0.376

Gnomad AMI AF: 0.673

Gnomad AMR AF: 0.502

Gnomad ASJ AF: 0.686

Gnomad EAS AF: 0.444

Gnomad SAS AF: 0.660

Gnomad FIN AF: 0.598

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.670

Gnomad OTH AF: 0.572

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

GnomAD4 genome AF: 0.559 AC: 84908 AN: 152026 Hom.: 24870 Cov.: 31 AF XY: 0.556 AC XY: 41317 AN XY: 74310

African (AFR) AF: 0.375 AC: 15567 AN: 41458

American (AMR) AF: 0.501 AC: 7656 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.686 AC: 2381 AN: 3472

East Asian (EAS) AF: 0.443 AC: 2284 AN: 5160

South Asian (SAS) AF: 0.660 AC: 3182 AN: 4818

European-Finnish (FIN) AF: 0.598 AC: 6319 AN: 10562

Middle Eastern (MID) AF: 0.603 AC: 176 AN: 292

European-Non Finnish (NFE) AF: 0.670 AC: 45539 AN: 67970

Other (OTH) AF: 0.565 AC: 1192 AN: 2110

Alfa AF: 0.624 Hom.: 17623

Bravo AF: 0.541

Asia WGS AF: 0.490 AC: 1705 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.5
DANN	Benign	0.76
PhyloP100		-0.60
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: rs13005285; hg19: chr2-234194957;