Variant rs325380 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001319206.4(MEF2A):c.*3642A>C variant causes a 3 prime UTR change. The variant allele was found at a frequency of 0.497 in 426,464 control chromosomes in the GnomAD database, including 57,026 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.43 ( 16876 hom., cov: 33)

Exomes 𝑓: 0.53 ( 40150 hom. )

Consequence

MEF2A
NM_001319206.4 3_prime_UTR

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 5.90

Variant links:

Genes affected

MEF2A (HGNC:6993): (myocyte enhancer factor 2A) The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

MEF2A links:

LYSMD4 (HGNC:26571): (LysM domain containing 4) Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

LYSMD4 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4

Computational evidence support a benign effect (MetaRNN=4.2113662E-4).

BA1

GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.561 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MEF2A	NM_001319206.4 linkuse as main transcript	c.*3642A>C		3_prime_UTR_variant	12/12	ENST00000557942.6	NP_001306135.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MEF2A	ENST00000557942.6 linkuse as main transcript	c.*3642A>C		3_prime_UTR_variant	12/12	5	NM_001319206.4	ENSP00000453095		Q02078-2

Frequencies

GnomAD3 genomes

AF:

0.434

AC:

65919

AN:

151996

Hom.:

16873

Cov.:

show subpopulations

Gnomad AFR

AF:

0.149

Gnomad AMI

AF:

0.670

Gnomad AMR

AF:

0.465

Gnomad ASJ

AF:

0.623

Gnomad EAS

AF:

0.344

Gnomad SAS

AF:

0.524

Gnomad FIN

AF:

0.570

Gnomad MID

AF:

0.538

Gnomad NFE

AF:

0.565

Gnomad OTH

AF:

0.461

GnomAD3 exomes

AF:

0.510

AC:

66764

AN:

130936

Hom.:

18042

AF XY:

0.518

AC XY:

36923

AN XY:

71260

show subpopulations

Gnomad AFR exome

AF:

0.132

Gnomad AMR exome

AF:

0.488

Gnomad ASJ exome

AF:

0.622

Gnomad EAS exome

AF:

0.333

Gnomad SAS exome

AF:

0.530

Gnomad FIN exome

AF:

0.571

Gnomad NFE exome

AF:

0.565

Gnomad OTH exome

AF:

0.527

GnomAD4 exome

AF:

0.532

AC:

146070

AN:

274350

Hom.:

40150

Cov.:

AF XY:

0.535

AC XY:

81806

AN XY:

152982

show subpopulations

Gnomad4 AFR exome

AF:

0.145

Gnomad4 AMR exome

AF:

0.487

Gnomad4 ASJ exome

AF:

0.615

Gnomad4 EAS exome

AF:

0.340

Gnomad4 SAS exome

AF:

0.535

Gnomad4 FIN exome

AF:

0.571

Gnomad4 NFE exome

AF:

0.564

Gnomad4 OTH exome

AF:

0.527

GnomAD4 genome

AF:

0.433

AC:

65920

AN:

152114

Hom.:

16876

Cov.:

AF XY:

0.433

AC XY:

32164

AN XY:

74354

show subpopulations

Gnomad4 AFR

AF:

0.148

Gnomad4 AMR

AF:

0.465

Gnomad4 ASJ

AF:

0.623

Gnomad4 EAS

AF:

0.345

Gnomad4 SAS

AF:

0.524

Gnomad4 FIN

AF:

0.570

Gnomad4 NFE

AF:

0.565

Gnomad4 OTH

AF:

0.458

Alfa

AF:

0.466

Hom.:

5429

Bravo

AF:

0.413

TwinsUK

AF:

0.557

AC:

2066

ALSPAC

AF:

0.560

AC:

2160

ExAC

AF:

0.499

AC:

8836

Asia WGS

AF:

0.401

AC:

1394

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_addAF

Benign

-0.63

BayesDel_noAF

Benign

-0.53

CADD

Benign

DANN

Uncertain

0.97

Eigen

Uncertain

0.45

Eigen_PC

Uncertain

0.54

FATHMM_MKL

Uncertain

0.96

LIST_S2

Benign

0.33

MetaRNN

Benign

0.00042

MetaSVM

Benign

-0.89

MutationTaster

Benign

1.0e-37

P;P;P;P

PROVEAN

Pathogenic

-7.0

REVEL

Uncertain

0.57

Vest4

0.046

ClinPred

0.082

GERP RS

5.9

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.0

Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over