19-48615461-AG-A

Variant summary

Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2

The NM_000979.4(RPL18):​c.492-15delC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000212 in 1,601,438 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.0011 ( 1 hom., cov: 33)
Exomes 𝑓: 0.00012 ( 0 hom. )

Consequence

RPL18
NM_000979.4 intron

Scores

Not classified

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.700
Variant links:
Genes affected
RPL18 (HGNC:10310): (ribosomal protein L18) Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -6 ACMG points.

BP6
Variant 19-48615461-AG-A is Benign according to our data. Variant chr19-48615461-AG-A is described in ClinVar as [Benign]. Clinvar id is 1972306.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High AC in GnomAd4 at 166 AD gene.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
RPL18NM_000979.4 linkc.492-15delC intron_variant Intron 6 of 6 ENST00000549920.6 NP_000970.1 Q07020-1A0A024QZD1
RPL18NM_001270490.2 linkc.405-15delC intron_variant Intron 5 of 5 NP_001257419.1 Q07020-2
RPL18NR_073022.2 linkn.519-15delC intron_variant Intron 6 of 6

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
RPL18ENST00000549920.6 linkc.492-15delC intron_variant Intron 6 of 6 1 NM_000979.4 ENSP00000447001.1 Q07020-1

Frequencies

GnomAD3 genomes
AF:
0.00110
AC:
167
AN:
151884
Hom.:
1
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.00360
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000722
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000589
Gnomad OTH
AF:
0.00144
GnomAD3 exomes
AF:
0.000287
AC:
70
AN:
244076
Hom.:
0
AF XY:
0.000211
AC XY:
28
AN XY:
132538
show subpopulations
Gnomad AFR exome
AF:
0.00438
Gnomad AMR exome
AF:
0.0000909
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.00
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
AF:
0.000120
AC:
174
AN:
1449436
Hom.:
0
Cov.:
29
AF XY:
0.0000957
AC XY:
69
AN XY:
720644
show subpopulations
Gnomad4 AFR exome
AF:
0.00324
Gnomad4 AMR exome
AF:
0.0000921
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.0000417
Gnomad4 OTH exome
AF:
0.000284
GnomAD4 genome
AF:
0.00109
AC:
166
AN:
152002
Hom.:
1
Cov.:
33
AF XY:
0.00104
AC XY:
77
AN XY:
74270
show subpopulations
Gnomad4 AFR
AF:
0.00357
Gnomad4 AMR
AF:
0.000721
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000589
Gnomad4 OTH
AF:
0.00142
Alfa
AF:
0.00121
Hom.:
0
Bravo
AF:
0.00121

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Jan 14, 2025
Labcorp Genetics (formerly Invitae), Labcorp
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing

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Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.010
Details are displayed if max score is > 0.2

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: rs560679964; hg19: chr19-49118718; API