rs280734

Variant summary

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

The ENST00000453451.5(ENSG00000226994):​n.180+47830G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.599 in 151,848 control chromosomes in the GnomAD database, including 28,403 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 0.60 ( 28403 hom., cov: 32)

Consequence

ENSG00000226994
ENST00000453451.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.178
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=-1.03).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.754 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
ENSG00000226994ENST00000453451.5 linkn.180+47830G>A intron_variant Intron 2 of 5 4
ENSG00000226994ENST00000585391.5 linkn.115+47830G>A intron_variant Intron 1 of 5 5
ENSG00000226994ENST00000586769.6 linkn.157+47830G>A intron_variant Intron 1 of 5 5

Frequencies

GnomAD3 genomes
AF:
0.599
AC:
90825
AN:
151730
Hom.:
28356
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.760
Gnomad AMI
AF:
0.333
Gnomad AMR
AF:
0.417
Gnomad ASJ
AF:
0.610
Gnomad EAS
AF:
0.417
Gnomad SAS
AF:
0.595
Gnomad FIN
AF:
0.612
Gnomad MID
AF:
0.630
Gnomad NFE
AF:
0.556
Gnomad OTH
AF:
0.573
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.599
AC:
90928
AN:
151848
Hom.:
28403
Cov.:
32
AF XY:
0.598
AC XY:
44385
AN XY:
74224
show subpopulations
Gnomad4 AFR
AF:
0.761
Gnomad4 AMR
AF:
0.417
Gnomad4 ASJ
AF:
0.610
Gnomad4 EAS
AF:
0.418
Gnomad4 SAS
AF:
0.595
Gnomad4 FIN
AF:
0.612
Gnomad4 NFE
AF:
0.557
Gnomad4 OTH
AF:
0.571
Alfa
AF:
0.556
Hom.:
48247
Bravo
AF:
0.586
Asia WGS
AF:
0.498
AC:
1728
AN:
3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
1.7
DANN
Benign
0.55

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: rs280734; hg19: chr2-35104389; API