rs17494870

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 0.456 in 152,114 control chromosomes in the GnomAD database, including 17,735 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 ( 17735 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.386
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=-0.94).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.562 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:
0.456
AC:
69292
AN:
151996
Hom.:
17733
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.236
Gnomad AMI
AF:
0.626
Gnomad AMR
AF:
0.506
Gnomad ASJ
AF:
0.484
Gnomad EAS
AF:
0.275
Gnomad SAS
AF:
0.349
Gnomad FIN
AF:
0.641
Gnomad MID
AF:
0.497
Gnomad NFE
AF:
0.566
Gnomad OTH
AF:
0.488
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.456
AC:
69319
AN:
152114
Hom.:
17735
Cov.:
32
AF XY:
0.455
AC XY:
33857
AN XY:
74336
show subpopulations
Gnomad4 AFR
AF:
0.236
Gnomad4 AMR
AF:
0.506
Gnomad4 ASJ
AF:
0.484
Gnomad4 EAS
AF:
0.275
Gnomad4 SAS
AF:
0.347
Gnomad4 FIN
AF:
0.641
Gnomad4 NFE
AF:
0.566
Gnomad4 OTH
AF:
0.487
Alfa
AF:
0.482
Hom.:
3715
Bravo
AF:
0.432
Asia WGS
AF:
0.326
AC:
1133
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.94
CADD
Benign
1.1
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: rs17494870; hg19: chr18-8471372; API