rs136457

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000618747.1(ENSG00000275656):​n.-185T>C variant causes a upstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.538 in 152,112 control chromosomes in the GnomAD database, including 24,228 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 0.54 ( 24228 hom., cov: 33)

Consequence

ENSG00000275656
ENST00000618747.1 upstream_gene

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.108
Variant links:
Genes affected

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.69).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.773 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
ENSG00000275656ENST00000618747.1 linkn.-185T>C upstream_gene_variant 6

Frequencies

GnomAD3 genomes
AF:
0.538
AC:
81770
AN:
151994
Hom.:
24180
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.780
Gnomad AMI
AF:
0.467
Gnomad AMR
AF:
0.426
Gnomad ASJ
AF:
0.504
Gnomad EAS
AF:
0.140
Gnomad SAS
AF:
0.383
Gnomad FIN
AF:
0.384
Gnomad MID
AF:
0.532
Gnomad NFE
AF:
0.485
Gnomad OTH
AF:
0.506
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.538
AC:
81875
AN:
152112
Hom.:
24228
Cov.:
33
AF XY:
0.528
AC XY:
39235
AN XY:
74336
show subpopulations
Gnomad4 AFR
AF:
0.780
Gnomad4 AMR
AF:
0.426
Gnomad4 ASJ
AF:
0.504
Gnomad4 EAS
AF:
0.141
Gnomad4 SAS
AF:
0.382
Gnomad4 FIN
AF:
0.384
Gnomad4 NFE
AF:
0.485
Gnomad4 OTH
AF:
0.506
Alfa
AF:
0.401
Hom.:
1638
Bravo
AF:
0.550
Asia WGS
AF:
0.352
AC:
1222
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.69
CADD
Benign
4.4
DANN
Benign
0.63

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: rs136457; hg19: chr22-32584659; API