NM_005920.4:c.1423G>A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005920.4(MEF2D):c.1423G>A(p.Gly475Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000434 in 1,613,862 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005920.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000172 AC: 43AN: 249854Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135396
GnomAD4 exome AF: 0.000462 AC: 676AN: 1461702Hom.: 0 Cov.: 32 AF XY: 0.000439 AC XY: 319AN XY: 727180
GnomAD4 genome AF: 0.000164 AC: 25AN: 152160Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1423G>A (p.G475R) alteration is located in exon 11 (coding exon 10) of the MEF2D gene. This alteration results from a G to A substitution at nucleotide position 1423, causing the glycine (G) at amino acid position 475 to be replaced by an arginine (R). 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