NM_005120.3:c.60G>A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_005120.3(MED12):c.60G>A(p.Gly20Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000911 in 1,097,604 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_005120.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 20
GnomAD3 exomes AF: 0.0000113 AC: 2AN: 177301Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 65201
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1097604Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363094
GnomAD4 genome Cov.: 20
ClinVar
Submissions by phenotype
FG syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at