1-156468150-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_005920.4(MEF2D):c.1397C>T(p.Pro466Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000322 in 1,613,796 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249740Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135348
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461594Hom.: 0 Cov.: 32 AF XY: 0.0000330 AC XY: 24AN XY: 727118
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1397C>T (p.P466L) alteration is located in exon 11 (coding exon 10) of the MEF2D gene. This alteration results from a C to T substitution at nucleotide position 1397, causing the proline (P) at amino acid position 466 to be replaced by a leucine (L). 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