rs1941114

Positions:

• chr18-27034255-C-T

Variant summary

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

The NM_031422.6(CHST9):​c.161-10098G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.105 in 152,168 control chromosomes in the GnomAD database, including 1,061 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 0.11 (1061 hom., cov: 33)
• Consequence: CHST9 NM_031422.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.121

Genes affected

CHST9 (HGNC:19898): (carbohydrate sulfotransferase 9) The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]

AQP4-AS1 (HGNC:26399): (AQP4 antisense RNA 1)

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 = 0.143 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CHST9	NM_031422.6	c.161-10098G>A		intron_variant		ENST00000618847.5	NP_113610.2
CHST9	NM_001256316.2	c.161-10098G>A		intron_variant			NP_001243245.1
CHST9	NM_001398493.1	c.161-10098G>A		intron_variant			NP_001385422.1
CHST9	XM_006722555.5	c.161-10098G>A		intron_variant			XP_006722618.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CHST9	ENST00000618847.5	c.161-10098G>A		intron_variant		1	NM_031422.6	ENSP00000480991	P1
CHST9	ENST00000581714.5	c.161-10098G>A		intron_variant		1		ENSP00000462852	P1
AQP4-AS1	ENST00000578701.5	n.140+109410C>T		intron_variant, non_coding_transcript_variant		1
CHST9	ENST00000580774.2	c.161-10098G>A		intron_variant		3		ENSP00000464655

Frequencies

GnomAD3 genomes AF: 0.106 AC: 16053 AN: 152050 Hom.: 1061 Cov.: 33

Gnomad AFR AF: 0.0355

Gnomad AMI AF: 0.116

Gnomad AMR AF: 0.116

Gnomad ASJ AF: 0.0899

Gnomad EAS AF: 0.0252

Gnomad SAS AF: 0.138

Gnomad FIN AF: 0.133

Gnomad MID AF: 0.177

Gnomad NFE AF: 0.145

Gnomad OTH AF: 0.118

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

GnomAD4 genome AF: 0.105 AC: 16050 AN: 152168 Hom.: 1061 Cov.: 33 AF XY: 0.105 AC XY: 7847 AN XY: 74380

Gnomad4 AFR AF: 0.0355

Gnomad4 AMR AF: 0.117

Gnomad4 ASJ AF: 0.0899

Gnomad4 EAS AF: 0.0253

Gnomad4 SAS AF: 0.138

Gnomad4 FIN AF: 0.133

Gnomad4 NFE AF: 0.145

Gnomad4 OTH AF: 0.117

Alfa AF: 0.138 Hom.: 2268

Bravo AF: 0.0991

Asia WGS AF: 0.0970 AC: 336 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.8
DANN	Benign	0.72

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: rs1941114; hg19: chr18-24614219;