11-63139576-A-G

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2

The NM_001136506.2(SLC22A24):​c.402+3802T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00407 in 152,090 control chromosomes in the GnomAD database, including 4 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 0.0041 ( 4 hom., cov: 31)

Consequence

SLC22A24
NM_001136506.2 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -2.09
Variant links:
Genes affected
SLC22A24 (HGNC:28542): (solute carrier family 22 member 24) SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -8 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.01).
BS2
High Homozygotes in GnomAd4 at 4 AR gene

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SLC22A24NM_001136506.2 linkc.402+3802T>C intron_variant Intron 1 of 9 ENST00000612278.4 NP_001129978.2 Q8N4F4-2
SLC22A24NM_173586.3 linkc.402+3802T>C intron_variant Intron 1 of 3 NP_775857.2 Q8N4F4-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SLC22A24ENST00000612278.4 linkc.402+3802T>C intron_variant Intron 1 of 9 5 NM_001136506.2 ENSP00000480336.1 Q8N4F4-2
SLC22A24ENST00000417740.5 linkc.402+3802T>C intron_variant Intron 1 of 9 5 ENSP00000396586.1 Q8N4F4-3
SLC22A24ENST00000326192.5 linkc.402+3802T>C intron_variant Intron 1 of 3 1 ENSP00000321549.5 Q8N4F4-1

Frequencies

GnomAD3 genomes
AF:
0.00403
AC:
612
AN:
151972
Hom.:
4
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.0136
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00321
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000147
Gnomad OTH
AF:
0.000958
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.00407
AC:
619
AN:
152090
Hom.:
4
Cov.:
31
AF XY:
0.00455
AC XY:
338
AN XY:
74340
show subpopulations
Gnomad4 AFR
AF:
0.0137
Gnomad4 AMR
AF:
0.00320
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000147
Gnomad4 OTH
AF:
0.000948

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
2.2
DANN
Benign
0.40

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: rs7948969; hg19: chr11-62907048; API