7-98154791-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014916.4(LMTK2):c.484G>A(p.Val162Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000762 in 1,613,350 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014916.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 251244Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135774
GnomAD4 exome AF: 0.0000760 AC: 111AN: 1461130Hom.: 0 Cov.: 29 AF XY: 0.0000702 AC XY: 51AN XY: 726898
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.484G>A (p.V162I) alteration is located in exon 5 (coding exon 5) of the LMTK2 gene. This alteration results from a G to A substitution at nucleotide position 484, causing the valine (V) at amino acid position 162 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at