rs11046430

Variant names:

• chr12-22413495-C-T
• rs11046430
• ENST00000508615.4:n.152+4088C>T

Variant summary

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

The ENST00000536558.5(ST8SIA1):​n.166+23381G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0978 in 151,910 control chromosomes in the GnomAD database, including 791 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 0.098 (791 hom., cov: 32)
• Consequence: ST8SIA1 ENST00000536558.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.744
• Publications: 8 publications found

Genes affected

C2CD5-AS1 (HGNC:55961): (C2CD5 antisense RNA 1)

ST8SIA1 (HGNC:10869): (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1) Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.132 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000536558.5. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	C2CD5-AS1	ENST00000508615.4	TSL:5	n.152+4088C>T		intron	N/A
	ST8SIA1	ENST00000536558.5	TSL:3	n.166+23381G>A		intron	N/A
	C2CD5-AS1	ENST00000661495.2		n.171+4088C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0978 AC: 14841 AN: 151792 Hom.: 789 Cov.: 32

Gnomad AFR AF: 0.135

Gnomad AMI AF: 0.0559

Gnomad AMR AF: 0.0648

Gnomad ASJ AF: 0.111

Gnomad EAS AF: 0.0363

Gnomad SAS AF: 0.114

Gnomad FIN AF: 0.0610

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0922

Gnomad OTH AF: 0.0824

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

GnomAD4 genome AF: 0.0978 AC: 14857 AN: 151910 Hom.: 791 Cov.: 32 AF XY: 0.0968 AC XY: 7190 AN XY: 74256

African (AFR) AF: 0.135 AC: 5582 AN: 41398

American (AMR) AF: 0.0646 AC: 986 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.111 AC: 385 AN: 3468

East Asian (EAS) AF: 0.0364 AC: 187 AN: 5144

South Asian (SAS) AF: 0.114 AC: 549 AN: 4796

European-Finnish (FIN) AF: 0.0610 AC: 644 AN: 10556

Middle Eastern (MID) AF: 0.0986 AC: 29 AN: 294

European-Non Finnish (NFE) AF: 0.0921 AC: 6261 AN: 67972

Other (OTH) AF: 0.0867 AC: 183 AN: 2110

Alfa AF: 0.103 Hom.: 113

Bravo AF: 0.0980

Asia WGS AF: 0.0630 AC: 218 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.45
DANN	Benign	0.53
PhyloP100		-0.74

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs11046430; hg19: chr12-22566429;