rs16713

Variant names:

• chr17-12715310-C-CCCT
• rs16713
• NM_001146312.3:c.122-209_122-208insCCT

Your query was ambiguous. Multiple possible variants found:

• chr17-12715310-C-CCCT
• chr17-12715310-C-CCT
• chr17-12715310-C-CT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_001146312.3(MYOCD):​c.122-209_122-208insCCT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: MYOCD NM_001146312.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.115

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 Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MYOCD	NM_001146312.3	c.122-209_122-208insCCT		intron_variant	Intron 2 of 13	ENST00000425538.6	NP_001139784.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MYOCD	ENST00000425538.6	c.122-209_122-208insCCT		intron_variant	Intron 2 of 13	1	NM_001146312.3	ENSP00000401678.1
MYOCD	ENST00000343344.8	c.122-209_122-208insCCT		intron_variant	Intron 2 of 12	1		ENSP00000341835.4
MYOCD	ENST00000579237.5	n.*40-209_*40-208insCCT		intron_variant	Intron 3 of 4	4		ENSP00000462694.1

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs16713; hg19: chr17-12618627;