rs274946

Variant summary

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

The NR_121602.1(LOC101929563):​n.1846+17333A>G 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 0.455 in 152,084 control chromosomes in the GnomAD database, including 16,155 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 0.46 ( 16155 hom., cov: 33)

Consequence

LOC101929563
NR_121602.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.794
Variant links:
Genes affected

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=-0.89).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.483 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
LOC101929563NR_121602.1 linkuse as main transcriptn.1846+17333A>G intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ENST00000640307.1 linkuse as main transcriptn.1834+17333A>G intron_variant, non_coding_transcript_variant 1

Frequencies

GnomAD3 genomes
AF:
0.456
AC:
69235
AN:
151964
Hom.:
16146
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.438
Gnomad AMI
AF:
0.474
Gnomad AMR
AF:
0.409
Gnomad ASJ
AF:
0.570
Gnomad EAS
AF:
0.158
Gnomad SAS
AF:
0.461
Gnomad FIN
AF:
0.485
Gnomad MID
AF:
0.494
Gnomad NFE
AF:
0.487
Gnomad OTH
AF:
0.485
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.455
AC:
69257
AN:
152084
Hom.:
16155
Cov.:
33
AF XY:
0.453
AC XY:
33642
AN XY:
74330
show subpopulations
Gnomad4 AFR
AF:
0.438
Gnomad4 AMR
AF:
0.409
Gnomad4 ASJ
AF:
0.570
Gnomad4 EAS
AF:
0.158
Gnomad4 SAS
AF:
0.462
Gnomad4 FIN
AF:
0.485
Gnomad4 NFE
AF:
0.487
Gnomad4 OTH
AF:
0.479
Alfa
AF:
0.485
Hom.:
35558
Bravo
AF:
0.447
Asia WGS
AF:
0.327
AC:
1137
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.89
CADD
Benign
3.1
DANN
Benign
0.81

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: rs274946; hg19: chr9-23585350; API