rs1714984

Positions:

• chr17-12714384-A-G
• chr17-12714384-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001146312.3(MYOCD):​c.122-1135A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.647 in 149,964 control chromosomes in the GnomAD database, including 34,130 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 0.65 (34130 hom., cov: 27)
• Consequence: MYOCD NM_001146312.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.304

Genes affected

MYOCD (HGNC:16067): (myocardin) This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.776 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MYOCD	NM_001146312.3	c.122-1135A>G		intron_variant		ENST00000425538.6	NP_001139784.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MYOCD	ENST00000425538.6	c.122-1135A>G		intron_variant		1	NM_001146312.3	ENSP00000401678.1
MYOCD	ENST00000343344.8	c.122-1135A>G		intron_variant		1		ENSP00000341835.4
MYOCD	ENST00000579237.5	n.*40-1135A>G		intron_variant		4		ENSP00000462694.1

Frequencies

GnomAD3 genomes AF: 0.647 AC: 96985 AN: 149846 Hom.: 34137 Cov.: 27

Gnomad AFR AF: 0.344

Gnomad AMI AF: 0.742

Gnomad AMR AF: 0.689

Gnomad ASJ AF: 0.817

Gnomad EAS AF: 0.691

Gnomad SAS AF: 0.617

Gnomad FIN AF: 0.820

Gnomad MID AF: 0.720

Gnomad NFE AF: 0.782

Gnomad OTH AF: 0.667

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

GnomAD4 genome AF: 0.647 AC: 96987 AN: 149964 Hom.: 34130 Cov.: 27 AF XY: 0.650 AC XY: 47524 AN XY: 73074

Gnomad4 AFR AF: 0.343

Gnomad4 AMR AF: 0.688

Gnomad4 ASJ AF: 0.817

Gnomad4 EAS AF: 0.691

Gnomad4 SAS AF: 0.618

Gnomad4 FIN AF: 0.820

Gnomad4 NFE AF: 0.782

Gnomad4 OTH AF: 0.666

Alfa AF: 0.693 Hom.: 7358

Bravo AF: 0.625

Asia WGS AF: 0.605 AC: 2105 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	8.1
DANN	Benign	0.75

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

Other links and lift over

dbSNP: rs1714984; hg19: chr17-12617701;