NM_014916.4:c.592C>G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014916.4(LMTK2):āc.592C>Gā(p.Leu198Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000168 in 1,604,690 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 (ā ).
Frequency
Consequence
NM_014916.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152160Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000820 AC: 2AN: 243920Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132318
GnomAD4 exome AF: 0.0000158 AC: 23AN: 1452530Hom.: 0 Cov.: 28 AF XY: 0.0000138 AC XY: 10AN XY: 722842
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152160Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.592C>G (p.L198V) alteration is located in exon 6 (coding exon 6) of the LMTK2 gene. This alteration results from a C to G substitution at nucleotide position 592, causing the leucine (L) at amino acid position 198 to be replaced by a valine (V). 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