rs4923705

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1

The ENST00000650498.1(ENSG00000259639):​n.200-26635C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.673 in 152,074 control chromosomes in the GnomAD database, including 35,569 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 0.67 ( 35569 hom., cov: 32)

Consequence


ENST00000650498.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.73
Variant links:
Genes affected
LINC02853 (HGNC:54390): (long intergenic non-protein coding RNA 2853)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.23).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.754 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ENST00000650498.1 linkuse as main transcriptn.200-26635C>T intron_variant, non_coding_transcript_variant
LINC02853ENST00000668741.1 linkuse as main transcriptn.462+25389G>A intron_variant, non_coding_transcript_variant
ENST00000561394.1 linkuse as main transcriptn.200-26635C>T intron_variant, non_coding_transcript_variant 3

Frequencies

GnomAD3 genomes
AF:
0.673
AC:
102291
AN:
151954
Hom.:
35573
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.509
Gnomad AMI
AF:
0.849
Gnomad AMR
AF:
0.577
Gnomad ASJ
AF:
0.673
Gnomad EAS
AF:
0.629
Gnomad SAS
AF:
0.754
Gnomad FIN
AF:
0.866
Gnomad MID
AF:
0.652
Gnomad NFE
AF:
0.760
Gnomad OTH
AF:
0.681
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.673
AC:
102313
AN:
152074
Hom.:
35569
Cov.:
32
AF XY:
0.678
AC XY:
50370
AN XY:
74322
show subpopulations
Gnomad4 AFR
AF:
0.509
Gnomad4 AMR
AF:
0.577
Gnomad4 ASJ
AF:
0.673
Gnomad4 EAS
AF:
0.629
Gnomad4 SAS
AF:
0.755
Gnomad4 FIN
AF:
0.866
Gnomad4 NFE
AF:
0.760
Gnomad4 OTH
AF:
0.678
Alfa
AF:
0.739
Hom.:
83751
Bravo
AF:
0.638
Asia WGS
AF:
0.667
AC:
2320
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.23
CADD
Benign
20
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: rs4923705; hg19: chr15-36293605; API