chr20-5952149-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032485.6(MCM8):c.134G>A(p.Gly45Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000892 in 1,613,536 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032485.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MCM8 | NM_032485.6 | c.134G>A | p.Gly45Glu | missense_variant | 2/19 | ENST00000610722.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MCM8 | ENST00000610722.4 | c.134G>A | p.Gly45Glu | missense_variant | 2/19 | 1 | NM_032485.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000108 AC: 27AN: 250598Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135440
GnomAD4 exome AF: 0.0000896 AC: 131AN: 1461254Hom.: 0 Cov.: 31 AF XY: 0.000114 AC XY: 83AN XY: 726892
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152282Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74468
ClinVar
Submissions by phenotype
Premature ovarian failure 10 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | MGZ Medical Genetics Center | Jan 27, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at