5-11922443-A-T

Variant summary

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

The variant allele was found at a frequency of 0.458 in 152,080 control chromosomes in the GnomAD database, including 16,532 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 0.46 ( 16532 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.559
Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.806 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

Frequencies

GnomAD3 genomes
AF:
0.458
AC:
69637
AN:
151960
Hom.:
16499
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.501
Gnomad AMI
AF:
0.568
Gnomad AMR
AF:
0.483
Gnomad ASJ
AF:
0.401
Gnomad EAS
AF:
0.826
Gnomad SAS
AF:
0.600
Gnomad FIN
AF:
0.378
Gnomad MID
AF:
0.449
Gnomad NFE
AF:
0.404
Gnomad OTH
AF:
0.436
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.458
AC:
69716
AN:
152080
Hom.:
16532
Cov.:
33
AF XY:
0.463
AC XY:
34389
AN XY:
74326
show subpopulations
Gnomad4 AFR
AF:
0.500
Gnomad4 AMR
AF:
0.483
Gnomad4 ASJ
AF:
0.401
Gnomad4 EAS
AF:
0.827
Gnomad4 SAS
AF:
0.601
Gnomad4 FIN
AF:
0.378
Gnomad4 NFE
AF:
0.404
Gnomad4 OTH
AF:
0.439
Alfa
AF:
0.422
Hom.:
1727
Bravo
AF:
0.470
Asia WGS
AF:
0.682
AC:
2366
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.90
CADD
Benign
4.9
DANN
Benign
0.80

Splicing

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: rs1458482; hg19: chr5-11922555; API