rs7727533

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 0.0433 in 152,248 control chromosomes in the GnomAD database, including 250 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 0.043 ( 250 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.250
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=-0.89).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.122 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:
0.0434
AC:
6597
AN:
152132
Hom.:
253
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.0703
Gnomad AMI
AF:
0.0154
Gnomad AMR
AF:
0.0642
Gnomad ASJ
AF:
0.0421
Gnomad EAS
AF:
0.131
Gnomad SAS
AF:
0.0896
Gnomad FIN
AF:
0.00989
Gnomad MID
AF:
0.0222
Gnomad NFE
AF:
0.0180
Gnomad OTH
AF:
0.0450
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0433
AC:
6591
AN:
152248
Hom.:
250
Cov.:
31
AF XY:
0.0440
AC XY:
3274
AN XY:
74436
show subpopulations
Gnomad4 AFR
AF:
0.0701
Gnomad4 AMR
AF:
0.0641
Gnomad4 ASJ
AF:
0.0421
Gnomad4 EAS
AF:
0.130
Gnomad4 SAS
AF:
0.0892
Gnomad4 FIN
AF:
0.00989
Gnomad4 NFE
AF:
0.0180
Gnomad4 OTH
AF:
0.0450
Alfa
AF:
0.0266
Hom.:
18
Bravo
AF:
0.0492
Asia WGS
AF:
0.112
AC:
389
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.89
CADD
Benign
2.7
DANN
Benign
0.68

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: rs7727533; hg19: chr5-26564543; API