rs4128753

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 0.471 in 151,876 control chromosomes in the GnomAD database, including 17,215 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 0.47 ( 17215 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.600
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=-0.93).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.527 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:
0.471
AC:
71528
AN:
151758
Hom.:
17205
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.431
Gnomad AMI
AF:
0.487
Gnomad AMR
AF:
0.394
Gnomad ASJ
AF:
0.482
Gnomad EAS
AF:
0.286
Gnomad SAS
AF:
0.349
Gnomad FIN
AF:
0.499
Gnomad MID
AF:
0.405
Gnomad NFE
AF:
0.531
Gnomad OTH
AF:
0.477
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.471
AC:
71579
AN:
151876
Hom.:
17215
Cov.:
31
AF XY:
0.466
AC XY:
34604
AN XY:
74214
show subpopulations
Gnomad4 AFR
AF:
0.431
Gnomad4 AMR
AF:
0.394
Gnomad4 ASJ
AF:
0.482
Gnomad4 EAS
AF:
0.286
Gnomad4 SAS
AF:
0.349
Gnomad4 FIN
AF:
0.499
Gnomad4 NFE
AF:
0.531
Gnomad4 OTH
AF:
0.481
Alfa
AF:
0.496
Hom.:
2311
Bravo
AF:
0.461
Asia WGS
AF:
0.378
AC:
1315
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
0.27
DANN
Benign
0.22

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: rs4128753; hg19: chr5-142826792; API