rs1812424

Positions:

• chr4-172234443-A-G
• chr4-172234443-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001034845.3(GALNTL6):​c.247+4679A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.38 in 152,002 control chromosomes in the GnomAD database, including 11,145 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 0.38 (11145 hom., cov: 33)
• Consequence: GALNTL6 NM_001034845.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.209

Genes affected

GALNTL6 (HGNC:33844): (polypeptide N-acetylgalactosaminyltransferase like 6) Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. 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

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.407 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GALNTL6	NM_001034845.3	c.247+4679A>G		intron_variant		ENST00000506823.6	NP_001030017.2
GALNTL6	XM_011531993.3	c.10+4679A>G		intron_variant			XP_011530295.1
GALNTL6	XM_017008243.3	c.247+4679A>G		intron_variant			XP_016863732.1
GALNTL6	XM_017008244.3	c.271+4679A>G		intron_variant			XP_016863733.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GALNTL6	ENST00000506823.6	c.247+4679A>G		intron_variant		1	NM_001034845.3	ENSP00000423313	P1
GALNTL6	ENST00000508122.5	c.196+4679A>G		intron_variant		1		ENSP00000423827

Frequencies

GnomAD3 genomes AF: 0.380 AC: 57722 AN: 151884 Hom.: 11141 Cov.: 33

Gnomad AFR AF: 0.358

Gnomad AMI AF: 0.416

Gnomad AMR AF: 0.401

Gnomad ASJ AF: 0.501

Gnomad EAS AF: 0.139

Gnomad SAS AF: 0.250

Gnomad FIN AF: 0.372

Gnomad MID AF: 0.400

Gnomad NFE AF: 0.411

Gnomad OTH AF: 0.374

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

GnomAD4 genome AF: 0.380 AC: 57747 AN: 152002 Hom.: 11145 Cov.: 33 AF XY: 0.376 AC XY: 27913 AN XY: 74288

Gnomad4 AFR AF: 0.358

Gnomad4 AMR AF: 0.400

Gnomad4 ASJ AF: 0.501

Gnomad4 EAS AF: 0.138

Gnomad4 SAS AF: 0.250

Gnomad4 FIN AF: 0.372

Gnomad4 NFE AF: 0.411

Gnomad4 OTH AF: 0.374

Alfa AF: 0.391 Hom.: 1414

Bravo AF: 0.382

Asia WGS AF: 0.220 AC: 761 AN: 3450

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.1
DANN	Benign	0.78

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

Publications

LitVar

Other links and lift over

dbSNP: rs1812424; hg19: chr4-173155594;