CMYA5

cardiomyopathy associated 5, the group of Tripartite motif family|A-kinase anchoring proteins|Fibronectin type III domain containing

Basic information

Region (hg38): 5:79689835-79800240

Previous symbols: [ "C5orf10" ]

Links

ENSG00000164309 ∙ NCBI:202333 ∙ OMIM:612193 ∙ HGNC:14305 ∙ Uniprot:Q8N3K9 ∙ AlphaFold ∙ 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 CMYA5 gene.

• Inborn genetic diseases (150 variants)
• not provided (84 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CMYA5 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				22	13	35
missense			139	35	20	194
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region				2		2
non coding						0
Total	0	0	141	57	33

Variants in CMYA5

This is a list of pathogenic ClinVar variants found in the CMYA5 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-79690010-G-A			Benign (Dec 28, 2018)
5-79690016-G-A		not specified	Uncertain significance (Dec 12, 2023)
5-79728917-T-C		not specified	Uncertain significance (Jul 08, 2022)
5-79728924-C-A			Likely benign (Dec 01, 2023)
5-79728971-C-T		not specified	Uncertain significance (Apr 06, 2023)
5-79729017-C-G			Likely benign (Nov 01, 2022)
5-79729043-C-G		not specified	Uncertain significance (May 27, 2022)
5-79729078-G-C			Likely benign (Dec 27, 2018)
5-79729080-T-C			Likely benign (Jan 25, 2018)
5-79729090-C-T		not specified	Uncertain significance (Nov 08, 2022)
5-79729091-G-A		not specified	Uncertain significance (May 01, 2022)
5-79729126-G-C			Uncertain significance (Sep 22, 2021)
5-79729130-C-T		not specified	Uncertain significance (May 27, 2022)
5-79729150-A-G		not specified	Uncertain significance (Dec 19, 2022)
5-79729172-A-T		not specified	Uncertain significance (Dec 19, 2022)
5-79729177-T-C		not specified	Uncertain significance (Apr 19, 2023)
5-79729183-C-G		not specified	Uncertain significance (Jul 14, 2021)
5-79729205-G-A			Benign (Dec 31, 2019)
5-79729214-A-G		not specified	Uncertain significance (Sep 20, 2023)
5-79729215-C-A		not specified	Uncertain significance (Sep 27, 2022)
5-79729270-C-G		not specified	Uncertain significance (Aug 22, 2023)
5-79729287-C-G		not specified	Uncertain significance (Feb 05, 2024)
5-79729290-G-T			Benign (Dec 31, 2019)
5-79729321-A-G		not specified	Uncertain significance (Oct 12, 2022)
5-79729355-C-G		not specified	Uncertain significance (Oct 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CMYA5	protein_coding	protein_coding	ENST00000446378	13	110364

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.35e-54	0.00205	124392	0	265	124657	0.00106

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0573	1985	1.98e+3	1.00	0.0000969	26301
Missense in Polyphen		371	404.46	0.91727		5652
Synonymous	0.323	753	764	0.985	0.0000408	7998
Loss of Function	2.48	101	132	0.766	0.00000636	2094

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000889	0.000886
Ashkenazi Jewish	0.000603	0.000596
East Asian	0.00112	0.00111
Finnish	0.000468	0.000464
European (Non-Finnish)	0.00159	0.00152
Middle Eastern	0.00112	0.00111
South Asian	0.000760	0.000752
Other	0.00205	0.00165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q70KF4}.

Intolerance Scores

• loftool: 0.999
• rvis_EVS: 10.43
• rvis_percentile_EVS: 99.97

Haploinsufficiency Scores

• pHI: 0.0919
• hipred: N
• hipred_score: 0.123
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.538

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Cmya5

Gene ontology

• Cellular component: nucleus;sarcoplasmic reticulum;M band;perinuclear region of cytoplasm
• Molecular function: protein binding