rs2548145

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 0.552 in 151,696 control chromosomes in the GnomAD database, including 24,141 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 ( 24141 hom., cov: 29)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.216
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 = 0.783 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:
0.552
AC:
83710
AN:
151576
Hom.:
24093
Cov.:
29
show subpopulations
Gnomad AFR
AF:
0.676
Gnomad AMI
AF:
0.554
Gnomad AMR
AF:
0.617
Gnomad ASJ
AF:
0.436
Gnomad EAS
AF:
0.804
Gnomad SAS
AF:
0.498
Gnomad FIN
AF:
0.464
Gnomad MID
AF:
0.436
Gnomad NFE
AF:
0.468
Gnomad OTH
AF:
0.530
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.552
AC:
83812
AN:
151696
Hom.:
24141
Cov.:
29
AF XY:
0.553
AC XY:
40977
AN XY:
74108
show subpopulations
Gnomad4 AFR
AF:
0.676
Gnomad4 AMR
AF:
0.618
Gnomad4 ASJ
AF:
0.436
Gnomad4 EAS
AF:
0.803
Gnomad4 SAS
AF:
0.496
Gnomad4 FIN
AF:
0.464
Gnomad4 NFE
AF:
0.468
Gnomad4 OTH
AF:
0.534
Alfa
AF:
0.494
Hom.:
30126
Bravo
AF:
0.576
Asia WGS
AF:
0.626
AC:
2180
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
1.4
DANN
Benign
0.48

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: rs2548145; hg19: chr5-40134777; API