21-39972984-T-G

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 0.664 in 152,056 control chromosomes in the GnomAD database, including 34,177 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 0.66 ( 34177 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.605
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=-0.87).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.791 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:
0.664
AC:
100949
AN:
151936
Hom.:
34136
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.799
Gnomad AMI
AF:
0.413
Gnomad AMR
AF:
0.635
Gnomad ASJ
AF:
0.660
Gnomad EAS
AF:
0.672
Gnomad SAS
AF:
0.687
Gnomad FIN
AF:
0.654
Gnomad MID
AF:
0.640
Gnomad NFE
AF:
0.593
Gnomad OTH
AF:
0.648
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.664
AC:
101038
AN:
152056
Hom.:
34177
Cov.:
32
AF XY:
0.669
AC XY:
49686
AN XY:
74316
show subpopulations
Gnomad4 AFR
AF:
0.798
Gnomad4 AMR
AF:
0.635
Gnomad4 ASJ
AF:
0.660
Gnomad4 EAS
AF:
0.672
Gnomad4 SAS
AF:
0.687
Gnomad4 FIN
AF:
0.654
Gnomad4 NFE
AF:
0.593
Gnomad4 OTH
AF:
0.652
Alfa
AF:
0.603
Hom.:
29926
Bravo
AF:
0.670
Asia WGS
AF:
0.700
AC:
2435
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.87
CADD
Benign
0.28
DANN
Benign
0.65

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: rs1734920; hg19: chr21-41344911; API