rs1559971

Variant summary

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

The ENST00000458437.2(POT1-AS1):​n.269-25094T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.3 in 151,926 control chromosomes in the GnomAD database, including 7,034 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 0.30 ( 7034 hom., cov: 32)

Consequence

POT1-AS1
ENST00000458437.2 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.836
Variant links:
Genes affected
POT1-AS1 (HGNC:49459): (POT1 antisense RNA 1)

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=-0.91).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.374 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
LOC101928283NR_110188.1 linkn.632-7651T>C intron_variant Intron 3 of 8

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
POT1-AS1ENST00000424515.2 linkn.649-7651T>C intron_variant Intron 4 of 9 5
POT1-AS1ENST00000458437.2 linkn.269-25094T>C intron_variant Intron 3 of 10 3
POT1-AS1ENST00000651909.1 linkn.262-25094T>C intron_variant Intron 3 of 7

Frequencies

GnomAD3 genomes
AF:
0.300
AC:
45599
AN:
151808
Hom.:
7023
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.275
Gnomad AMI
AF:
0.346
Gnomad AMR
AF:
0.262
Gnomad ASJ
AF:
0.317
Gnomad EAS
AF:
0.256
Gnomad SAS
AF:
0.389
Gnomad FIN
AF:
0.360
Gnomad MID
AF:
0.255
Gnomad NFE
AF:
0.311
Gnomad OTH
AF:
0.290
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.300
AC:
45644
AN:
151926
Hom.:
7034
Cov.:
32
AF XY:
0.302
AC XY:
22455
AN XY:
74264
show subpopulations
Gnomad4 AFR
AF:
0.276
Gnomad4 AMR
AF:
0.261
Gnomad4 ASJ
AF:
0.317
Gnomad4 EAS
AF:
0.256
Gnomad4 SAS
AF:
0.389
Gnomad4 FIN
AF:
0.360
Gnomad4 NFE
AF:
0.311
Gnomad4 OTH
AF:
0.293
Alfa
AF:
0.311
Hom.:
3812
Bravo
AF:
0.289
Asia WGS
AF:
0.358
AC:
1244
AN:
3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
0.38
DANN
Benign
0.79

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: rs1559971; hg19: chr7-124962085; API