7-128480690-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018396.3(METTL2B):c.602C>T(p.Thr201Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000324 in 1,606,030 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018396.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152122Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000544 AC: 12AN: 220542Hom.: 0 AF XY: 0.0000668 AC XY: 8AN XY: 119808
GnomAD4 exome AF: 0.0000310 AC: 45AN: 1453908Hom.: 0 Cov.: 31 AF XY: 0.0000373 AC XY: 27AN XY: 723086
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152122Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.602C>T (p.T201M) alteration is located in exon 4 (coding exon 4) of the METTL2B gene. This alteration results from a C to T substitution at nucleotide position 602, causing the threonine (T) at amino acid position 201 to be replaced by a methionine (M). 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