Variant 5-89058858-T-A details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate

The ENST00000514092.5(MEF2C-AS1):n.174-36101T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.0 ( 0 hom., cov: 31)

Failed GnomAD Quality Control

Consequence

MEF2C-AS1
ENST00000514092.5 intron

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.754

Variant links:

Genes affected

MEF2C-AS1 (HGNC:):

MEF2C-AS1 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -2 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.41).

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect
MEF2C-AS1	NR_136217.1 linkuse as main transcript	n.311-36101T>A	intron_variant
MEF2C-AS1	NR_136218.1 linkuse as main transcript	n.401-36101T>A	intron_variant
MEF2C-AS1	NR_136219.1 linkuse as main transcript	n.294-36101T>A	intron_variant

Ensembl

Gene	Transcript	HGVSc	Effect	TSL
MEF2C-AS1	ENST00000508521.1 linkuse as main transcript	n.192-16238T>A	intron_variant	5
MEF2C-AS1	ENST00000512585.5 linkuse as main transcript	n.132-36101T>A	intron_variant	5
MEF2C-AS1	ENST00000514092.5 linkuse as main transcript	n.174-36101T>A	intron_variant	3

Frequencies

GnomAD3 genomes

AF:

0.00

AC:

AN:

151888

Hom.:

Cov.:

FAILED QC

Gnomad AFR

AF:

0.00

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.00

Gnomad OTH

AF:

0.00

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Data not reliable, filtered out with message: AC0

AF:

0.00

AC:

AN:

151888

Hom.:

Cov.:

AF XY:

0.00

AC XY:

AN XY:

74186

Gnomad4 AFR

AF:

0.00

Gnomad4 AMR

AF:

0.00

Gnomad4 ASJ

AF:

0.00

Gnomad4 EAS

AF:

0.00

Gnomad4 SAS

AF:

0.00

Gnomad4 FIN

AF:

0.00

Gnomad4 NFE

AF:

0.00

Gnomad4 OTH

AF:

0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.41

CADD

Benign

DANN

Benign

0.65

Splicing

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