16-11839706-C-T

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate

The NM_015659.3(RSL1D1):​c.1135G>A​(p.Glu379Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,752 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 32)
Exomes 𝑓: 6.8e-7 ( 0 hom. )

Consequence

RSL1D1
NM_015659.3 missense

Scores

19

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.00400
Variant links:
Genes affected
RSL1D1 (HGNC:24534): (ribosomal L1 domain containing 1) Enables mRNA 3'-UTR binding activity and mRNA 5'-UTR binding activity. Involved in regulation of apoptotic process and regulation of cellular senescence. Acts upstream of or within regulation of protein localization. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.06933096).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
RSL1D1NM_015659.3 linkc.1135G>A p.Glu379Lys missense_variant Exon 8 of 9 ENST00000571133.6 NP_056474.2 O76021-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
RSL1D1ENST00000571133.6 linkc.1135G>A p.Glu379Lys missense_variant Exon 8 of 9 1 NM_015659.3 ENSP00000460871.1 O76021-1

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
AF:
6.85e-7
AC:
1
AN:
1460752
Hom.:
0
Cov.:
33
AF XY:
0.00
AC XY:
0
AN XY:
726744
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
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:
8.99e-7
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.070
BayesDel_addAF
Benign
-0.18
T
BayesDel_noAF
Benign
-0.50
CADD
Benign
12
DANN
Benign
0.96
DEOGEN2
Benign
0.017
T;.
Eigen
Benign
-0.92
Eigen_PC
Benign
-0.98
FATHMM_MKL
Benign
0.24
N
LIST_S2
Benign
0.61
T;T
M_CAP
Benign
0.0055
T
MetaRNN
Benign
0.069
T;T
MetaSVM
Benign
-1.0
T
MutationAssessor
Benign
1.6
L;.
PrimateAI
Benign
0.27
T
PROVEAN
Benign
-0.71
.;N
REVEL
Benign
0.020
Sift
Benign
0.25
.;T
Sift4G
Benign
0.70
T;.
Polyphen
0.067
B;.
Vest4
0.049
MutPred
0.38
Gain of methylation at E379 (P = 0.0036);.;
MVP
0.33
MPC
0.012
ClinPred
0.079
T
GERP RS
1.5
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.1
Varity_R
0.025
gMVP
0.16

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.13
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr16-11933563; API