chr10-129759310-G-A
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 2P and 8B. PM1BP4_StrongBS2
The NM_002412.5(MGMT):c.383G>A(p.Arg128Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000481 in 1,614,164 control chromosomes in the GnomAD database, including 17 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002412.5 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MGMT | NM_002412.5 | c.383G>A | p.Arg128Gln | missense_variant | Exon 4 of 5 | ENST00000651593.1 | NP_002403.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000355 AC: 54AN: 152192Hom.: 2 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000847 AC: 213AN: 251444 AF XY: 0.00106 show subpopulations
GnomAD4 exome AF: 0.000495 AC: 724AN: 1461854Hom.: 15 Cov.: 31 AF XY: 0.000620 AC XY: 451AN XY: 727228 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000348 AC: 53AN: 152310Hom.: 2 Cov.: 33 AF XY: 0.000457 AC XY: 34AN XY: 74468 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at