rs2890930

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 0.0834 in 151,674 control chromosomes in the GnomAD database, including 780 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 0.083 ( 780 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -2.62
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=-1.06).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.202 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:
0.0834
AC:
12644
AN:
151556
Hom.:
778
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0169
Gnomad AMI
AF:
0.118
Gnomad AMR
AF:
0.0563
Gnomad ASJ
AF:
0.0854
Gnomad EAS
AF:
0.178
Gnomad SAS
AF:
0.214
Gnomad FIN
AF:
0.181
Gnomad MID
AF:
0.0538
Gnomad NFE
AF:
0.0983
Gnomad OTH
AF:
0.0711
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0834
AC:
12644
AN:
151674
Hom.:
780
Cov.:
32
AF XY:
0.0893
AC XY:
6621
AN XY:
74110
show subpopulations
Gnomad4 AFR
AF:
0.0169
Gnomad4 AMR
AF:
0.0564
Gnomad4 ASJ
AF:
0.0854
Gnomad4 EAS
AF:
0.179
Gnomad4 SAS
AF:
0.213
Gnomad4 FIN
AF:
0.181
Gnomad4 NFE
AF:
0.0983
Gnomad4 OTH
AF:
0.0732
Alfa
AF:
0.0816
Hom.:
370
Bravo
AF:
0.0685
Asia WGS
AF:
0.205
AC:
704
AN:
3448

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.1
CADD
Benign
0.62
DANN
Benign
0.31

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: rs2890930; hg19: chr9-10861806; COSMIC: COSV69446745; API