chr20-47682774-G-A

Position:

• chr20-47682774-G-A

Variant summary

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

The NM_001387048.1(SULF2):​c.1064+220C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.497 in 152,010 control chromosomes in the GnomAD database, including 19,149 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 0.50 (19149 hom., cov: 32)
• Consequence: SULF2 NM_001387048.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.32

Genes affected

SULF2 (HGNC:20392): (sulfatase 2) Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.631 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SULF2	NM_001387048.1	c.1064+220C>T		intron_variant		ENST00000688720.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SULF2	ENST00000688720.1	c.1064+220C>T		intron_variant			NM_001387048.1	P3
	ENST00000526566.2	n.482-1568G>A		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.497 AC: 75419 AN: 151894 Hom.: 19131 Cov.: 32

Gnomad AFR AF: 0.477

Gnomad AMI AF: 0.280

Gnomad AMR AF: 0.484

Gnomad ASJ AF: 0.311

Gnomad EAS AF: 0.649

Gnomad SAS AF: 0.577

Gnomad FIN AF: 0.636

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.486

Gnomad OTH AF: 0.472

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

GnomAD4 genome AF: 0.497 AC: 75486 AN: 152010 Hom.: 19149 Cov.: 32 AF XY: 0.504 AC XY: 37449 AN XY: 74316

Gnomad4 AFR AF: 0.477

Gnomad4 AMR AF: 0.485

Gnomad4 ASJ AF: 0.311

Gnomad4 EAS AF: 0.650

Gnomad4 SAS AF: 0.575

Gnomad4 FIN AF: 0.636

Gnomad4 NFE AF: 0.486

Gnomad4 OTH AF: 0.473

Alfa AF: 0.475 Hom.: 23119

Bravo AF: 0.482

Asia WGS AF: 0.608 AC: 2110 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.11
DANN	Benign	0.67

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: rs1889177; hg19: chr20-46311518; COSMIC: COSV63420720; COSMIC: COSV63420720;