8-34006009-C-G
Position:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000521714.1(ENSG00000254194):n.75-673G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.872 in 151,970 control chromosomes in the GnomAD database, including 60,633 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 0.87 ( 60633 hom., cov: 29)
Consequence
ENSG00000254194
ENST00000521714.1 intron
ENST00000521714.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.364
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=-0.86).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.99 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000254194 | ENST00000518163.5 | n.71+3513G>C | intron_variant | 3 | ||||||
ENSG00000254194 | ENST00000521714.1 | n.75-673G>C | intron_variant | 2 | ||||||
ENSG00000253642 | ENST00000523063.5 | n.505-1847C>G | intron_variant | 3 | ||||||
ENSG00000253642 | ENST00000523336.2 | n.148-1847C>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.873 AC: 132533AN: 151852Hom.: 60620 Cov.: 29
GnomAD3 genomes
AF:
AC:
132533
AN:
151852
Hom.:
Cov.:
29
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.872 AC: 132575AN: 151970Hom.: 60633 Cov.: 29 AF XY: 0.876 AC XY: 65102AN XY: 74280
GnomAD4 genome
AF:
AC:
132575
AN:
151970
Hom.:
Cov.:
29
AF XY:
AC XY:
65102
AN XY:
74280
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
3380
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at