7-7228800-C-T

Variant names:

• chr7-7228800-C-T
• rs10259085
• NM_020156.5:c.-17-5503C>T

Variant summary

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

The NM_020156.5(C1GALT1):​c.-17-5503C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.546 in 152,020 control chromosomes in the GnomAD database, including 24,494 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 0.55 (24494 hom., cov: 31)
• Consequence: C1GALT1 NM_020156.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.118
• Publications: 27 publications found

Genes affected

C1GALT1 (HGNC:24337): (core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1) The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.765 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_020156.5. 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
	C1GALT1	NM_020156.5	MANE Select	c.-17-5503C>T		intron	N/A	NP_064541.1	Q9NS00-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	C1GALT1	ENST00000436587.7	TSL:5 MANE Select	c.-17-5503C>T		intron	N/A	ENSP00000389176.2	Q9NS00-1
	C1GALT1	ENST00000476068.1	TSL:1	n.192-5503C>T		intron	N/A
	C1GALT1	ENST00000910742.1		c.-17-5503C>T		intron	N/A	ENSP00000580801.1

Frequencies

GnomAD3 genomes AF: 0.546 AC: 82921 AN: 151902 Hom.: 24465 Cov.: 31

Gnomad AFR AF: 0.772

Gnomad AMI AF: 0.509

Gnomad AMR AF: 0.470

Gnomad ASJ AF: 0.510

Gnomad EAS AF: 0.707

Gnomad SAS AF: 0.314

Gnomad FIN AF: 0.458

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.445

Gnomad OTH AF: 0.557

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

GnomAD4 genome AF: 0.546 AC: 82993 AN: 152020 Hom.: 24494 Cov.: 31 AF XY: 0.541 AC XY: 40197 AN XY: 74322

African (AFR) AF: 0.772 AC: 32047 AN: 41492

American (AMR) AF: 0.470 AC: 7173 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.510 AC: 1770 AN: 3470

East Asian (EAS) AF: 0.707 AC: 3656 AN: 5174

South Asian (SAS) AF: 0.313 AC: 1504 AN: 4810

European-Finnish (FIN) AF: 0.458 AC: 4833 AN: 10544

Middle Eastern (MID) AF: 0.490 AC: 144 AN: 294

European-Non Finnish (NFE) AF: 0.445 AC: 30225 AN: 67934

Other (OTH) AF: 0.557 AC: 1177 AN: 2114

Alfa AF: 0.474 Hom.: 79131

Bravo AF: 0.561

Asia WGS AF: 0.522 AC: 1814 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	4.6
DANN	Benign	0.57
PhyloP100		-0.12
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: rs10259085; hg19: chr7-7268431;