rs724078

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 0.412 in 151,924 control chromosomes in the GnomAD database, including 13,712 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 0.41 ( 13712 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.977
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=-1.01).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.558 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:
0.411
AC:
62453
AN:
151804
Hom.:
13670
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.563
Gnomad AMI
AF:
0.244
Gnomad AMR
AF:
0.387
Gnomad ASJ
AF:
0.343
Gnomad EAS
AF:
0.281
Gnomad SAS
AF:
0.463
Gnomad FIN
AF:
0.440
Gnomad MID
AF:
0.472
Gnomad NFE
AF:
0.331
Gnomad OTH
AF:
0.425
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.412
AC:
62539
AN:
151924
Hom.:
13712
Cov.:
32
AF XY:
0.416
AC XY:
30868
AN XY:
74254
show subpopulations
Gnomad4 AFR
AF:
0.564
Gnomad4 AMR
AF:
0.387
Gnomad4 ASJ
AF:
0.343
Gnomad4 EAS
AF:
0.280
Gnomad4 SAS
AF:
0.464
Gnomad4 FIN
AF:
0.440
Gnomad4 NFE
AF:
0.331
Gnomad4 OTH
AF:
0.425
Alfa
AF:
0.327
Hom.:
10793
Bravo
AF:
0.412
Asia WGS
AF:
0.475
AC:
1651
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
0.95
DANN
Benign
0.32

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: rs724078; hg19: chr6-29489048; API