rs12657273

Variant summary

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

The ENST00000509458.5(ENSG00000249959):​n.75-489A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.393 in 151,972 control chromosomes in the GnomAD database, including 11,872 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 0.39 ( 11872 hom., cov: 32)

Consequence

ENSG00000249959
ENST00000509458.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.21
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=-0.88).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.525 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
ENSG00000249959ENST00000502287.1 linkn.210-489A>G intron_variant Intron 1 of 4 5
ENSG00000249959ENST00000509458.5 linkn.75-489A>G intron_variant Intron 1 of 4 3

Frequencies

GnomAD3 genomes
AF:
0.393
AC:
59675
AN:
151854
Hom.:
11867
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.336
Gnomad AMI
AF:
0.424
Gnomad AMR
AF:
0.421
Gnomad ASJ
AF:
0.408
Gnomad EAS
AF:
0.374
Gnomad SAS
AF:
0.542
Gnomad FIN
AF:
0.373
Gnomad MID
AF:
0.440
Gnomad NFE
AF:
0.414
Gnomad OTH
AF:
0.384
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.393
AC:
59706
AN:
151972
Hom.:
11872
Cov.:
32
AF XY:
0.394
AC XY:
29281
AN XY:
74296
show subpopulations
Gnomad4 AFR
AF:
0.335
Gnomad4 AMR
AF:
0.421
Gnomad4 ASJ
AF:
0.408
Gnomad4 EAS
AF:
0.374
Gnomad4 SAS
AF:
0.543
Gnomad4 FIN
AF:
0.373
Gnomad4 NFE
AF:
0.414
Gnomad4 OTH
AF:
0.380
Alfa
AF:
0.411
Hom.:
6917
Bravo
AF:
0.390
Asia WGS
AF:
0.396
AC:
1375
AN:
3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.88
CADD
Benign
6.8
DANN
Benign
0.73

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: rs12657273; hg19: chr5-107046698; API