rs1403124

Variant names:

• chr3-4171349-C-A
• rs1403124
• ENST00000448413.5:n.1015-102604G>T

Your query was ambiguous. Multiple possible variants found:

• chr3-4171349-C-A
• chr3-4171349-C-T

Variant summary

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

The ENST00000448413.5(SUMF1):​n.1015-102604G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.656 in 151,758 control chromosomes in the GnomAD database, including 32,829 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 0.66 (32829 hom., cov: 30)
• Consequence: SUMF1 ENST00000448413.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.198
• Publications: 5 publications found

Genes affected

SUMF1 (HGNC:20376): (sulfatase modifying factor 1) This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

SUMF1 Gene-Disease associations (from GenCC):

• mucosulfatidosis

  Inheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: PanelApp Australia, Orphanet, Labcorp Genetics (formerly Invitae), Genomics England PanelApp, ClinGen, G2P

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.709 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000448413.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SUMF1	ENST00000448413.5	TSL:2	n.1015-102604G>T		intron	N/A	ENSP00000404384.1

Frequencies

GnomAD3 genomes AF: 0.657 AC: 99558 AN: 151640 Hom.: 32824 Cov.: 30

Gnomad AFR AF: 0.619

Gnomad AMI AF: 0.812

Gnomad AMR AF: 0.655

Gnomad ASJ AF: 0.677

Gnomad EAS AF: 0.603

Gnomad SAS AF: 0.729

Gnomad FIN AF: 0.606

Gnomad MID AF: 0.663

Gnomad NFE AF: 0.683

Gnomad OTH AF: 0.655

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

GnomAD4 genome AF: 0.656 AC: 99599 AN: 151758 Hom.: 32829 Cov.: 30 AF XY: 0.653 AC XY: 48448 AN XY: 74154

African (AFR) AF: 0.619 AC: 25586 AN: 41338

American (AMR) AF: 0.654 AC: 9982 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.677 AC: 2348 AN: 3470

East Asian (EAS) AF: 0.603 AC: 3106 AN: 5152

South Asian (SAS) AF: 0.729 AC: 3504 AN: 4808

European-Finnish (FIN) AF: 0.606 AC: 6360 AN: 10492

Middle Eastern (MID) AF: 0.679 AC: 197 AN: 290

European-Non Finnish (NFE) AF: 0.683 AC: 46400 AN: 67930

Other (OTH) AF: 0.651 AC: 1377 AN: 2116

Alfa AF: 0.603 Hom.: 2724

Bravo AF: 0.655

Asia WGS AF: 0.640 AC: 2225 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.9
DANN	Benign	0.79
PhyloP100		0.20
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs1403124; hg19: chr3-4213033;