rs121918530
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001319206.4(MEF2A):āc.782A>Gā(p.Asn261Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00137 in 1,613,574 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001319206.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEF2A | NM_001319206.4 | c.782A>G | p.Asn261Ser | missense_variant | 8/12 | ENST00000557942.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEF2A | ENST00000557942.6 | c.782A>G | p.Asn261Ser | missense_variant | 8/12 | 5 | NM_001319206.4 |
Frequencies
GnomAD3 genomes ? AF: 0.000940 AC: 143AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000785 AC: 195AN: 248492Hom.: 1 AF XY: 0.000727 AC XY: 98AN XY: 134804
GnomAD4 exome AF: 0.00141 AC: 2067AN: 1461274Hom.: 5 Cov.: 31 AF XY: 0.00138 AC XY: 1006AN XY: 726882
GnomAD4 genome ? AF: 0.000939 AC: 143AN: 152300Hom.: 0 Cov.: 32 AF XY: 0.000980 AC XY: 73AN XY: 74476
ClinVar
Submissions by phenotype
Coronary artery disease/myocardial infarction Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 15, 2004 | - - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 18, 2015 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2022 | MEF2A: BP4, BS1, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at