chr1-110401561-C-A

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_001382293.1(LAMTOR5):​c.238G>T​(p.Asp80Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,454,662 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D80N) has been classified as Uncertain significance.

Frequency

Genomes: not found (cov: 32)
Exomes 𝑓: 0.0000014 ( 0 hom. )

Consequence

LAMTOR5
NM_001382293.1 missense

Scores

4
10
4

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 5.09
Variant links:
Genes affected
LAMTOR5 (HGNC:17955): (late endosomal/lysosomal adaptor, MAPK and MTOR activator 5) This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]
LAMTOR5-AS1 (HGNC:40823): (LAMTOR5 and SLC16A4 antisense RNA 1)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
LAMTOR5NM_001382293.1 linkc.238G>T p.Asp80Tyr missense_variant Exon 4 of 4 ENST00000602318.6 NP_001369222.1
LAMTOR5NM_006402.3 linkc.484G>T p.Asp162Tyr missense_variant Exon 4 of 4 NP_006393.2 O43504A0A8Z5A536

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
LAMTOR5ENST00000602318.6 linkc.238G>T p.Asp80Tyr missense_variant Exon 4 of 4 1 NM_001382293.1 ENSP00000473439.1 O43504

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
AF:
0.00000137
AC:
2
AN:
1454662
Hom.:
0
Cov.:
30
AF XY:
0.00000138
AC XY:
1
AN XY:
722032
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:
0.00000181
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
32
Bravo
AF:
0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
0.50
BayesDel_addAF
Pathogenic
0.20
D
BayesDel_noAF
Uncertain
0.060
CADD
Pathogenic
28
DANN
Uncertain
0.99
DEOGEN2
Benign
0.10
T;T;T;.;T;.
Eigen
Pathogenic
0.72
Eigen_PC
Pathogenic
0.74
FATHMM_MKL
Pathogenic
0.98
D
LIST_S2
Uncertain
0.89
.;D;D;.;D;D
M_CAP
Benign
0.0060
T
MetaRNN
Uncertain
0.72
D;D;D;D;D;D
MetaSVM
Benign
-0.31
T
PrimateAI
Uncertain
0.66
T
PROVEAN
Uncertain
-4.1
D;D;.;D;.;.
REVEL
Uncertain
0.55
Sift
Uncertain
0.011
D;D;.;D;.;.
Sift4G
Uncertain
0.042
D;D;T;D;T;D
Polyphen
1.0
.;.;D;.;.;.
Vest4
0.65
MutPred
0.45
.;.;Loss of ubiquitination at K78 (P = 0.0583);.;.;.;
MVP
0.66
MPC
0.96
ClinPred
0.99
D
GERP RS
5.8
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.1
Varity_R
0.93
gMVP
0.83

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: rs780723150; hg19: chr1-110944183; API