rs1519337

Variant summary

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

The ENST00000655176.1(ENSG00000287144):​n.661-13314G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.889 in 152,216 control chromosomes in the GnomAD database, including 60,366 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 0.89 ( 60366 hom., cov: 32)

Consequence

ENSG00000287144
ENST00000655176.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.509
Variant links:
Genes affected
LINC00616 (HGNC:44065): (long intergenic non-protein coding RNA 616)

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=-0.98).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.941 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
ENSG00000287144ENST00000655176.1 linkn.661-13314G>A intron_variant Intron 3 of 8
LINC00616ENST00000656980.1 linkn.844-33155C>T intron_variant Intron 6 of 6
LINC00616ENST00000661963.1 linkn.806-33155C>T intron_variant Intron 6 of 6

Frequencies

GnomAD3 genomes
AF:
0.889
AC:
135162
AN:
152098
Hom.:
60324
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.810
Gnomad AMI
AF:
0.957
Gnomad AMR
AF:
0.865
Gnomad ASJ
AF:
0.964
Gnomad EAS
AF:
0.925
Gnomad SAS
AF:
0.965
Gnomad FIN
AF:
0.933
Gnomad MID
AF:
0.965
Gnomad NFE
AF:
0.921
Gnomad OTH
AF:
0.907
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.889
AC:
135265
AN:
152216
Hom.:
60366
Cov.:
32
AF XY:
0.890
AC XY:
66224
AN XY:
74438
show subpopulations
Gnomad4 AFR
AF:
0.810
Gnomad4 AMR
AF:
0.865
Gnomad4 ASJ
AF:
0.964
Gnomad4 EAS
AF:
0.926
Gnomad4 SAS
AF:
0.964
Gnomad4 FIN
AF:
0.933
Gnomad4 NFE
AF:
0.921
Gnomad4 OTH
AF:
0.907
Alfa
AF:
0.912
Hom.:
37506
Bravo
AF:
0.876
Asia WGS
AF:
0.910
AC:
3157
AN:
3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.98
CADD
Benign
7.8
DANN
Benign
0.49

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: rs1519337; hg19: chr4-138933074; API