rs6449870

Variant summary

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

The ENST00000503106.5(LINC02997):​n.252-116377A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.475 in 152,050 control chromosomes in the GnomAD database, including 18,216 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 0.47 ( 18216 hom., cov: 32)

Consequence

LINC02997
ENST00000503106.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.34
Variant links:
Genes affected
LINC02997 (HGNC:56113): (long intergenic non-protein coding RNA 2997)

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 (EAS) allele frequency at 95% confidence interval = 0.818 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
LINC02997ENST00000503106.5 linkn.252-116377A>G intron_variant Intron 1 of 3 4
LINC02997ENST00000668508.1 linkn.123+45671A>G intron_variant Intron 1 of 6

Frequencies

GnomAD3 genomes
AF:
0.474
AC:
72077
AN:
151932
Hom.:
18170
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.589
Gnomad AMI
AF:
0.400
Gnomad AMR
AF:
0.529
Gnomad ASJ
AF:
0.387
Gnomad EAS
AF:
0.839
Gnomad SAS
AF:
0.359
Gnomad FIN
AF:
0.438
Gnomad MID
AF:
0.322
Gnomad NFE
AF:
0.385
Gnomad OTH
AF:
0.459
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.475
AC:
72184
AN:
152050
Hom.:
18216
Cov.:
32
AF XY:
0.477
AC XY:
35421
AN XY:
74310
show subpopulations
Gnomad4 AFR
AF:
0.590
Gnomad4 AMR
AF:
0.529
Gnomad4 ASJ
AF:
0.387
Gnomad4 EAS
AF:
0.839
Gnomad4 SAS
AF:
0.359
Gnomad4 FIN
AF:
0.438
Gnomad4 NFE
AF:
0.385
Gnomad4 OTH
AF:
0.462
Alfa
AF:
0.403
Hom.:
24694
Bravo
AF:
0.493
Asia WGS
AF:
0.581
AC:
2018
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
0.33
DANN
Benign
0.39

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: rs6449870; hg19: chr5-66799242; API