rs10853181

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000582441.1(ENSG00000266202):​c.220-8251C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.554 in 152,058 control chromosomes in the GnomAD database, including 24,874 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 0.55 ( 24874 hom., cov: 32)

Consequence

ENSG00000266202
ENST00000582441.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.570
Variant links:
Genes affected

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.725 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ENSG00000266202ENST00000582441.1 linkc.220-8251C>T intron_variant Intron 3 of 4 4 ENSP00000462879.1 J3KTA2

Frequencies

GnomAD3 genomes
AF:
0.554
AC:
84233
AN:
151940
Hom.:
24870
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.340
Gnomad AMI
AF:
0.630
Gnomad AMR
AF:
0.629
Gnomad ASJ
AF:
0.588
Gnomad EAS
AF:
0.745
Gnomad SAS
AF:
0.698
Gnomad FIN
AF:
0.633
Gnomad MID
AF:
0.503
Gnomad NFE
AF:
0.628
Gnomad OTH
AF:
0.578
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.554
AC:
84267
AN:
152058
Hom.:
24874
Cov.:
32
AF XY:
0.559
AC XY:
41550
AN XY:
74310
show subpopulations
Gnomad4 AFR
AF:
0.340
Gnomad4 AMR
AF:
0.629
Gnomad4 ASJ
AF:
0.588
Gnomad4 EAS
AF:
0.744
Gnomad4 SAS
AF:
0.697
Gnomad4 FIN
AF:
0.633
Gnomad4 NFE
AF:
0.628
Gnomad4 OTH
AF:
0.578
Alfa
AF:
0.594
Hom.:
11158
Bravo
AF:
0.544
Asia WGS
AF:
0.682
AC:
2371
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.93
CADD
Benign
0.085
DANN
Benign
0.41

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs10853181; hg19: chr17-26139618; API