rs545731

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 0.109 in 152,202 control chromosomes in the GnomAD database, including 1,396 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 0.11 ( 1396 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.500
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=-0.8).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.226 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:
0.109
AC:
16560
AN:
152084
Hom.:
1394
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.230
Gnomad AMI
AF:
0.124
Gnomad AMR
AF:
0.0690
Gnomad ASJ
AF:
0.0972
Gnomad EAS
AF:
0.000773
Gnomad SAS
AF:
0.0532
Gnomad FIN
AF:
0.0372
Gnomad MID
AF:
0.177
Gnomad NFE
AF:
0.0676
Gnomad OTH
AF:
0.100
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.109
AC:
16576
AN:
152202
Hom.:
1396
Cov.:
32
AF XY:
0.106
AC XY:
7918
AN XY:
74414
show subpopulations
Gnomad4 AFR
AF:
0.230
Gnomad4 AMR
AF:
0.0688
Gnomad4 ASJ
AF:
0.0972
Gnomad4 EAS
AF:
0.000775
Gnomad4 SAS
AF:
0.0533
Gnomad4 FIN
AF:
0.0372
Gnomad4 NFE
AF:
0.0676
Gnomad4 OTH
AF:
0.0993
Alfa
AF:
0.0917
Hom.:
117
Bravo
AF:
0.116
Asia WGS
AF:
0.0400
AC:
137
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.80
CADD
Benign
6.0
DANN
Benign
0.45

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: rs545731; hg19: chr1-156111290; API