ENST00000582441.1:c.220-6989C>T

Variant names:

• chr17-27811330-G-A
• rs1889022
• ENST00000582441.1:c.220-6989C>T

Variant summary

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

The ENST00000582441.1(ENSG00000266202):​c.220-6989C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.538 in 152,028 control chromosomes in the GnomAD database, including 24,089 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 0.54 (24089 hom., cov: 31)
• Consequence: ENSG00000266202 ENST00000582441.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.217
• Publications: 10 publications found

Genes affected

ENSG00000266202 (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 (EAS) allele frequency at 95% confidence interval = 0.727 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000582441.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000266202	ENST00000582441.1	TSL:4	c.220-6989C>T		intron	N/A	ENSP00000462879.1

Frequencies

GnomAD3 genomes AF: 0.539 AC: 81823 AN: 151910 Hom.: 24093 Cov.: 31

Gnomad AFR AF: 0.283

Gnomad AMI AF: 0.630

Gnomad AMR AF: 0.624

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.747

Gnomad SAS AF: 0.697

Gnomad FIN AF: 0.634

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.629

Gnomad OTH AF: 0.566

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

GnomAD4 genome AF: 0.538 AC: 81834 AN: 152028 Hom.: 24089 Cov.: 31 AF XY: 0.544 AC XY: 40417 AN XY: 74320

African (AFR) AF: 0.283 AC: 11732 AN: 41470

American (AMR) AF: 0.624 AC: 9544 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.588 AC: 2039 AN: 3468

East Asian (EAS) AF: 0.747 AC: 3843 AN: 5148

South Asian (SAS) AF: 0.696 AC: 3357 AN: 4820

European-Finnish (FIN) AF: 0.634 AC: 6704 AN: 10578

Middle Eastern (MID) AF: 0.493 AC: 145 AN: 294

European-Non Finnish (NFE) AF: 0.629 AC: 42705 AN: 67946

Other (OTH) AF: 0.565 AC: 1194 AN: 2112

Alfa AF: 0.583 Hom.: 9597

Bravo AF: 0.527

Asia WGS AF: 0.679 AC: 2360 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.24
DANN	Benign	0.66
PhyloP100		0.22

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

Other links and lift over

dbSNP: rs1889022; hg19: chr17-26138356;