rs410156

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 0.81 in 148,492 control chromosomes in the GnomAD database, including 49,540 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 0.81 ( 49540 hom., cov: 23)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.81
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=-0.96).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.943 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:
0.810
AC:
120215
AN:
148374
Hom.:
49486
Cov.:
23
show subpopulations
Gnomad AFR
AF:
0.951
Gnomad AMI
AF:
0.866
Gnomad AMR
AF:
0.710
Gnomad ASJ
AF:
0.828
Gnomad EAS
AF:
0.560
Gnomad SAS
AF:
0.809
Gnomad FIN
AF:
0.711
Gnomad MID
AF:
0.839
Gnomad NFE
AF:
0.780
Gnomad OTH
AF:
0.813
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.810
AC:
120329
AN:
148492
Hom.:
49540
Cov.:
23
AF XY:
0.803
AC XY:
57936
AN XY:
72136
show subpopulations
Gnomad4 AFR
AF:
0.951
Gnomad4 AMR
AF:
0.710
Gnomad4 ASJ
AF:
0.828
Gnomad4 EAS
AF:
0.559
Gnomad4 SAS
AF:
0.809
Gnomad4 FIN
AF:
0.711
Gnomad4 NFE
AF:
0.780
Gnomad4 OTH
AF:
0.816
Alfa
AF:
0.787
Hom.:
5558
Bravo
AF:
0.817
Asia WGS
AF:
0.735
AC:
2558
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.96
CADD
Benign
0.70
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: rs410156; hg19: chr7-137988754; API