TPM1-AS

TPM1 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 15:62971190-63049387

Links

ENSG00000259498 ∙ NCBI:111064646 ∙ ∙ HGNC:53635 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TPM1-AS gene.

• not provided (23 variants)
• not specified (9 variants)
• Cardiomyopathy (2 variants)
• TPM1-related condition (1 variants)
• Dilated cardiomyopathy 1Y (1 variants)
• Primary familial hypertrophic cardiomyopathy (1 variants)
• Ventricular fibrillation;Prolonged QT interval (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TPM1-AS gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding			7	14	12	33
Total	0	0	7	15	12

Variants in TPM1-AS

This is a list of pathogenic ClinVar variants found in the TPM1-AS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-63042321-C-A			Benign (Jun 19, 2018)
15-63042410-C-G			Benign (Jun 19, 2018)
15-63042436-C-G			Benign (Jun 19, 2018)
15-63042489-G-C			Benign (Jun 18, 2018)
15-63042499-C-G			Benign (Jun 19, 2018)
15-63042555-G-GGAGGGCC			Likely benign (Jun 19, 2018)
15-63042558-A-C			Likely benign (Jun 19, 2018)
15-63042566-G-A			Likely benign (Jun 19, 2018)
15-63042591-C-T			Likely benign (Aug 16, 2019)
15-63042624-G-A		Dilated Cardiomyopathy, Dominant • Hypertrophic cardiomyopathy	Benign/Likely benign (Jun 14, 2016)
15-63042641-A-G			Benign (Mar 03, 2015)
15-63042644-G-A		Dilated cardiomyopathy 1Y • Hypertrophic cardiomyopathy 3	Conflicting classifications of pathogenicity (Feb 01, 2024)
15-63042645-G-C		Hypertrophic cardiomyopathy 3 • Dilated cardiomyopathy 1Y	Conflicting classifications of pathogenicity (Mar 23, 2018)
15-63042678-T-G			Benign (Mar 03, 2015)
15-63042705-C-G			Benign (Mar 03, 2015)
15-63042716-G-A		Dilated cardiomyopathy 1Y • Hypertrophic cardiomyopathy 3 • Hypertrophic cardiomyopathy 3;Dilated cardiomyopathy 1Y	Uncertain significance (Aug 03, 2021)
15-63042724-C-T		Hypertrophic cardiomyopathy 3 • Dilated cardiomyopathy 1Y • Hypertrophic cardiomyopathy 3;Dilated cardiomyopathy 1Y	Uncertain significance (Jul 28, 2021)
15-63042736-G-C		Hypertrophic cardiomyopathy 3 • Dilated cardiomyopathy 1Y	Uncertain significance (Jan 13, 2018)
15-63042743-CCGCGCTCGCACTCCCGCTCCTCCGCCCGACCG-C			Uncertain significance (Feb 02, 2021)
15-63042757-C-T			Benign (Mar 03, 2015)
15-63042782-C-T		Hypertrophic cardiomyopathy • Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
15-63042783-G-T		Dilated cardiomyopathy 1Y • Hypertrophic cardiomyopathy 3	Uncertain significance (Jan 12, 2018)
15-63042789-C-T		not specified	Likely benign (Mar 23, 2017)
15-63042815-C-G		Cardiomyopathy	Uncertain significance (Sep 14, 2021)
15-63042816-T-C			Benign (Mar 03, 2015)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP