rs399208

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 0.533 in 135,402 control chromosomes in the GnomAD database, including 25,219 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 0.53 ( 25219 hom., cov: 23)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.27
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=-1.0).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.708 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:
0.533
AC:
72098
AN:
135322
Hom.:
25211
Cov.:
23
show subpopulations
Gnomad AFR
AF:
0.499
Gnomad AMI
AF:
0.485
Gnomad AMR
AF:
0.606
Gnomad ASJ
AF:
0.599
Gnomad EAS
AF:
0.626
Gnomad SAS
AF:
0.730
Gnomad FIN
AF:
0.447
Gnomad MID
AF:
0.489
Gnomad NFE
AF:
0.530
Gnomad OTH
AF:
0.526
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.533
AC:
72143
AN:
135402
Hom.:
25219
Cov.:
23
AF XY:
0.533
AC XY:
34876
AN XY:
65466
show subpopulations
Gnomad4 AFR
AF:
0.498
Gnomad4 AMR
AF:
0.607
Gnomad4 ASJ
AF:
0.599
Gnomad4 EAS
AF:
0.626
Gnomad4 SAS
AF:
0.730
Gnomad4 FIN
AF:
0.447
Gnomad4 NFE
AF:
0.530
Gnomad4 OTH
AF:
0.528
Alfa
AF:
0.536
Hom.:
2167
Asia WGS
AF:
0.680
AC:
2104
AN:
3092

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
1.6
DANN
Benign
0.67

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: rs399208; hg19: chr11-55427522; API