chrX-7264242-C-A

Position:

• chrX-7264242-C-A

Variant summary

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

The NM_001320752.2(STS):​c.806+4470C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.353 in 111,224 control chromosomes in the GnomAD database, including 5,121 homozygotes. There are 11,465 hemizygotes in GnomAD. 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 0.35 (5121 hom., 11465 hem., cov: 24)
• Consequence: STS NM_001320752.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.79

Genes affected

STS (HGNC:11425): (steroid sulfatase) This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]

STS (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.39 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
STS	NM_001320752.2	c.806+4470C>A		intron_variant		ENST00000674429.1	NP_001307681.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
STS	ENST00000674429.1	c.806+4470C>A		intron_variant			NM_001320752.2	ENSP00000501534.1

Frequencies

GnomAD3 genomes AF: 0.353 AC: 39292 AN: 111170 Hom.: 5122 Cov.: 24 AF XY: 0.343 AC XY: 11465 AN XY: 33398

Gnomad AFR AF: 0.284

Gnomad AMI AF: 0.630

Gnomad AMR AF: 0.337

Gnomad ASJ AF: 0.358

Gnomad EAS AF: 0.393

Gnomad SAS AF: 0.223

Gnomad FIN AF: 0.376

Gnomad MID AF: 0.376

Gnomad NFE AF: 0.394

Gnomad OTH AF: 0.370

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

GnomAD4 genome AF: 0.353 AC: 39287 AN: 111224 Hom.: 5121 Cov.: 24 AF XY: 0.343 AC XY: 11465 AN XY: 33462

Gnomad4 AFR AF: 0.283

Gnomad4 AMR AF: 0.336

Gnomad4 ASJ AF: 0.358

Gnomad4 EAS AF: 0.393

Gnomad4 SAS AF: 0.223

Gnomad4 FIN AF: 0.376

Gnomad4 NFE AF: 0.394

Gnomad4 OTH AF: 0.373

Alfa AF: 0.118 Hom.: 462

Bravo AF: 0.356

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.033
DANN	Benign	0.26

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: rs5934842; hg19: chrX-7182283;