rs2098910

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 0.722 in 152,130 control chromosomes in the GnomAD database, including 40,360 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 0.72 ( 40360 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.23
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=-1.02).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.827 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:
0.722
AC:
109778
AN:
152012
Hom.:
40358
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.570
Gnomad AMI
AF:
0.903
Gnomad AMR
AF:
0.786
Gnomad ASJ
AF:
0.779
Gnomad EAS
AF:
0.847
Gnomad SAS
AF:
0.761
Gnomad FIN
AF:
0.800
Gnomad MID
AF:
0.785
Gnomad NFE
AF:
0.769
Gnomad OTH
AF:
0.752
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.722
AC:
109813
AN:
152130
Hom.:
40360
Cov.:
32
AF XY:
0.726
AC XY:
53988
AN XY:
74366
show subpopulations
Gnomad4 AFR
AF:
0.570
Gnomad4 AMR
AF:
0.786
Gnomad4 ASJ
AF:
0.779
Gnomad4 EAS
AF:
0.847
Gnomad4 SAS
AF:
0.760
Gnomad4 FIN
AF:
0.800
Gnomad4 NFE
AF:
0.769
Gnomad4 OTH
AF:
0.753
Alfa
AF:
0.735
Hom.:
3858
Bravo
AF:
0.719
Asia WGS
AF:
0.806
AC:
2798
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
1.4
DANN
Benign
0.49

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: rs2098910; hg19: chr18-72200602; API