rs680379

Variant summary

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

The ENST00000669657.1(LINC01723):​n.875-19306A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.695 in 152,080 control chromosomes in the GnomAD database, including 37,382 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 0.69 ( 37382 hom., cov: 32)

Consequence

LINC01723
ENST00000669657.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.797
Variant links:
Genes affected
LINC01723 (HGNC:52511): (long intergenic non-protein coding RNA 1723)

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=-0.92).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.837 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
LINC01723ENST00000669657.1 linkn.875-19306A>G intron_variant Intron 4 of 4
LINC01723ENST00000670547.1 linkn.877-6158A>G intron_variant Intron 4 of 5
LINC01723ENST00000671262.1 linkn.871-19306A>G intron_variant Intron 4 of 4

Frequencies

GnomAD3 genomes
AF:
0.695
AC:
105549
AN:
151962
Hom.:
37334
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.844
Gnomad AMI
AF:
0.531
Gnomad AMR
AF:
0.694
Gnomad ASJ
AF:
0.717
Gnomad EAS
AF:
0.577
Gnomad SAS
AF:
0.721
Gnomad FIN
AF:
0.668
Gnomad MID
AF:
0.703
Gnomad NFE
AF:
0.616
Gnomad OTH
AF:
0.688
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.695
AC:
105659
AN:
152080
Hom.:
37382
Cov.:
32
AF XY:
0.697
AC XY:
51810
AN XY:
74336
show subpopulations
Gnomad4 AFR
AF:
0.844
Gnomad4 AMR
AF:
0.694
Gnomad4 ASJ
AF:
0.717
Gnomad4 EAS
AF:
0.577
Gnomad4 SAS
AF:
0.721
Gnomad4 FIN
AF:
0.668
Gnomad4 NFE
AF:
0.616
Gnomad4 OTH
AF:
0.689
Alfa
AF:
0.630
Hom.:
67793
Bravo
AF:
0.699
Asia WGS
AF:
0.692
AC:
2408
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
0.16
DANN
Benign
0.53

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: rs680379; hg19: chr20-12969400; API