rs11021927

Variant names:

• chr11-11555002-C-A
• rs11021927
• NM_198516.3:c.235+66357G>T

Variant summary

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

The NM_198516.3(GALNT18):​c.235+66357G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.251 in 152,160 control chromosomes in the GnomAD database, including 6,077 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 0.25 (6077 hom., cov: 32)
• Consequence: GALNT18 NM_198516.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.578
• Publications: 5 publications found

Genes affected

GALNT18 (HGNC:30488): (polypeptide N-acetylgalactosaminyltransferase 18) Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.367 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
GALNT18	NM_198516.3	c.235+66357G>T		intron_variant	Intron 1 of 10	ENST00000227756.5	NP_940918.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GALNT18	ENST00000227756.5	c.235+66357G>T		intron_variant	Intron 1 of 10	1	NM_198516.3	ENSP00000227756.4
GALNT18	ENST00000526064.1	n.400+66357G>T		intron_variant	Intron 1 of 2	1

Frequencies

GnomAD3 genomes AF: 0.251 AC: 38208 AN: 152042 Hom.: 6073 Cov.: 32

Gnomad AFR AF: 0.0655

Gnomad AMI AF: 0.327

Gnomad AMR AF: 0.226

Gnomad ASJ AF: 0.335

Gnomad EAS AF: 0.145

Gnomad SAS AF: 0.381

Gnomad FIN AF: 0.394

Gnomad MID AF: 0.377

Gnomad NFE AF: 0.340

Gnomad OTH AF: 0.271

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

GnomAD4 genome AF: 0.251 AC: 38213 AN: 152160 Hom.: 6077 Cov.: 32 AF XY: 0.256 AC XY: 19053 AN XY: 74370

African (AFR) AF: 0.0654 AC: 2715 AN: 41530

American (AMR) AF: 0.225 AC: 3445 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.335 AC: 1161 AN: 3470

East Asian (EAS) AF: 0.145 AC: 753 AN: 5176

South Asian (SAS) AF: 0.382 AC: 1840 AN: 4820

European-Finnish (FIN) AF: 0.394 AC: 4167 AN: 10586

Middle Eastern (MID) AF: 0.388 AC: 114 AN: 294

European-Non Finnish (NFE) AF: 0.340 AC: 23144 AN: 67978

Other (OTH) AF: 0.273 AC: 576 AN: 2110

Alfa AF: 0.304 Hom.: 21409

Bravo AF: 0.230

Asia WGS AF: 0.242 AC: 842 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	4.2
DANN	Benign	0.32
PhyloP100		0.58
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: rs11021927; hg19: chr11-11576549;