rs56240109

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 0.0894 in 152,254 control chromosomes in the GnomAD database, including 867 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 0.089 ( 867 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.18
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=-0.91).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.129 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:
0.0895
AC:
13621
AN:
152136
Hom.:
867
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0248
Gnomad AMI
AF:
0.102
Gnomad AMR
AF:
0.0767
Gnomad ASJ
AF:
0.156
Gnomad EAS
AF:
0.00714
Gnomad SAS
AF:
0.115
Gnomad FIN
AF:
0.0933
Gnomad MID
AF:
0.196
Gnomad NFE
AF:
0.132
Gnomad OTH
AF:
0.0936
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0894
AC:
13613
AN:
152254
Hom.:
867
Cov.:
33
AF XY:
0.0872
AC XY:
6491
AN XY:
74460
show subpopulations
Gnomad4 AFR
AF:
0.0247
Gnomad4 AMR
AF:
0.0765
Gnomad4 ASJ
AF:
0.156
Gnomad4 EAS
AF:
0.00696
Gnomad4 SAS
AF:
0.116
Gnomad4 FIN
AF:
0.0933
Gnomad4 NFE
AF:
0.131
Gnomad4 OTH
AF:
0.0926
Alfa
AF:
0.112
Hom.:
141
Bravo
AF:
0.0824
Asia WGS
AF:
0.0610
AC:
215
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
0.30
DANN
Benign
0.57

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: rs56240109; hg19: chr16-3769581; API