chr4-141564956-A-G

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 0.507 in 152,108 control chromosomes in the GnomAD database, including 19,682 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 0.51 ( 19682 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.373
Variant links:

Genome browser will be placed here

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.541 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.507
AC:
77127
AN:
151990
Hom.:
19684
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.450
Gnomad AMI
AF:
0.660
Gnomad AMR
AF:
0.418
Gnomad ASJ
AF:
0.567
Gnomad EAS
AF:
0.479
Gnomad SAS
AF:
0.558
Gnomad FIN
AF:
0.591
Gnomad MID
AF:
0.389
Gnomad NFE
AF:
0.544
Gnomad OTH
AF:
0.486
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.507
AC:
77150
AN:
152108
Hom.:
19682
Cov.:
33
AF XY:
0.508
AC XY:
37809
AN XY:
74378
show subpopulations
Gnomad4 AFR
AF:
0.449
Gnomad4 AMR
AF:
0.418
Gnomad4 ASJ
AF:
0.567
Gnomad4 EAS
AF:
0.479
Gnomad4 SAS
AF:
0.559
Gnomad4 FIN
AF:
0.591
Gnomad4 NFE
AF:
0.544
Gnomad4 OTH
AF:
0.487
Alfa
AF:
0.537
Hom.:
11170
Bravo
AF:
0.490
Asia WGS
AF:
0.536
AC:
1863
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
4.3
DANN
Benign
0.75

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: rs2322182; hg19: chr4-142486109; API