rs5933220

Positions:

• chrX-132855005-T-C

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

The NM_001394073.1(HS6ST2):​c.947+101803A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.53 (11980 hom., 17159 hem., cov: 23)
  • Failed GnomAD Quality Control
• Consequence: HS6ST2 NM_001394073.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.250

Genes affected

HS6ST2 (HGNC:19133): (heparan sulfate 6-O-sulfotransferase 2) Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
HS6ST2	NM_001394073.1	c.947+101803A>G		intron_variant		ENST00000370833.7	NP_001381002.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
HS6ST2	ENST00000370833.7	c.947+101803A>G		intron_variant		5	NM_001394073.1	ENSP00000359870

Frequencies

GnomAD3 genomes AF: 0.535 AC: 59248 AN: 110791 Hom.: 11979 Cov.: 23 AF XY: 0.518 AC XY: 17118 AN XY: 33033

Gnomad AFR AF: 0.692

Gnomad AMI AF: 0.464

Gnomad AMR AF: 0.348

Gnomad ASJ AF: 0.448

Gnomad EAS AF: 0.371

Gnomad SAS AF: 0.426

Gnomad FIN AF: 0.517

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.505

Gnomad OTH AF: 0.509

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

GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.535 AC: 59282 AN: 110847 Hom.: 11980 Cov.: 23 AF XY: 0.518 AC XY: 17159 AN XY: 33099

Gnomad4 AFR AF: 0.692

Gnomad4 AMR AF: 0.348

Gnomad4 ASJ AF: 0.448

Gnomad4 EAS AF: 0.369

Gnomad4 SAS AF: 0.428

Gnomad4 FIN AF: 0.517

Gnomad4 NFE AF: 0.506

Gnomad4 OTH AF: 0.508

Alfa AF: 0.389 Hom.: 2799

Bravo AF: 0.529

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	6.6
DANN	Benign	0.79

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: rs5933220; hg19: chrX-131989033;