rs11070188

Variant names:

• chr15-39335142-A-G
• rs11070188
• ENST00000558209.1:n.451+24647T>C

Variant summary

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

The ENST00000558209.1(ENSG00000259345):​n.451+24647T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.754 in 152,076 control chromosomes in the GnomAD database, including 44,478 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 0.75 (44478 hom., cov: 31)
• Consequence: ENSG00000259345 ENST00000558209.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.537
• Publications: 1 publications found

Genes affected

ENSG00000259345 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.856 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105370777	XR_007064588.1	n.517+85402T>C		intron_variant	Intron 1 of 3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000259345	ENST00000558209.1	n.451+24647T>C		intron_variant	Intron 2 of 2	3
ENSG00000259345	ENST00000559318.1	n.409-35660T>C		intron_variant	Intron 1 of 1	4
ENSG00000259345	ENST00000560484.1	n.67+85767T>C		intron_variant	Intron 1 of 3	4
ENSG00000308595	ENST00000835258.1	n.-154A>G		upstream_gene_variant

Frequencies

GnomAD3 genomes AF: 0.754 AC: 114550 AN: 151958 Hom.: 44447 Cov.: 31

Gnomad AFR AF: 0.561

Gnomad AMI AF: 0.988

Gnomad AMR AF: 0.721

Gnomad ASJ AF: 0.865

Gnomad EAS AF: 0.669

Gnomad SAS AF: 0.818

Gnomad FIN AF: 0.813

Gnomad MID AF: 0.801

Gnomad NFE AF: 0.862

Gnomad OTH AF: 0.778

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

GnomAD4 genome AF: 0.754 AC: 114626 AN: 152076 Hom.: 44478 Cov.: 31 AF XY: 0.751 AC XY: 55804 AN XY: 74308

African (AFR) AF: 0.561 AC: 23234 AN: 41424

American (AMR) AF: 0.721 AC: 11020 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.865 AC: 3003 AN: 3470

East Asian (EAS) AF: 0.669 AC: 3454 AN: 5164

South Asian (SAS) AF: 0.818 AC: 3938 AN: 4816

European-Finnish (FIN) AF: 0.813 AC: 8605 AN: 10580

Middle Eastern (MID) AF: 0.813 AC: 239 AN: 294

European-Non Finnish (NFE) AF: 0.862 AC: 58591 AN: 68010

Other (OTH) AF: 0.776 AC: 1641 AN: 2114

Alfa AF: 0.794 Hom.: 12728

Bravo AF: 0.733

Asia WGS AF: 0.740 AC: 2575 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.9
DANN	Benign	0.30
PhyloP100		-0.54

Splicing

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

Other links and lift over

dbSNP: rs11070188; hg19: chr15-39627343;