MYO7B

myosin VIIB, the group of FERM domain containing|Myosin heavy chains, class VII

Basic information

Region (hg38): 2:127535683-127637729

Links

ENSG00000169994 ∙ NCBI:4648 ∙ OMIM:606541 ∙ HGNC:7607 ∙ Uniprot:Q6PIF6 ∙ 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 MYO7B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO7B 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	14	36
missense			145	19	23	187
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				6	9	15
non coding				1	2	3
Total	0	0	145	42	39

Variants in MYO7B

This is a list of pathogenic ClinVar variants found in the MYO7B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-127564190-A-G		not specified	Uncertain significance (Oct 29, 2021)
2-127564241-T-C		not specified	Uncertain significance (Dec 15, 2023)
2-127564274-T-C		MYO7B-related disorder	Benign (Feb 18, 2019)
2-127565246-G-A		not specified	Likely benign (Sep 06, 2022)
2-127565305-G-A		not specified	Uncertain significance (Nov 07, 2022)
2-127565314-C-T		not specified	Uncertain significance (Jul 08, 2022)
2-127565323-G-A		not specified	Uncertain significance (Dec 22, 2023)
2-127566647-A-T		not specified	Uncertain significance (Nov 10, 2022)
2-127566669-C-T		MYO7B-related disorder	Likely benign (Mar 26, 2019)
2-127566696-C-G		MYO7B-related disorder	Benign (Mar 25, 2019)
2-127566730-C-T		not specified	Uncertain significance (Mar 03, 2022)
2-127566753-G-A		MYO7B-related disorder	Benign (Aug 08, 2017)
2-127566769-G-A		not specified	Uncertain significance (Oct 04, 2022)
2-127566783-C-T		MYO7B-related disorder	Benign (Sep 18, 2019)
2-127566820-A-G		not specified	Uncertain significance (Apr 07, 2022)
2-127569872-T-C		not specified	Uncertain significance (Mar 31, 2024)
2-127569883-G-A		MYO7B-related disorder	Uncertain significance (Jul 20, 2024)
2-127569917-A-C		MYO7B-related disorder	Likely benign (Apr 19, 2019)
2-127573931-G-T		not specified	Uncertain significance (Sep 22, 2023)
2-127573944-G-A		not specified	Uncertain significance (Jul 06, 2021)
2-127573979-G-A		not specified	Uncertain significance (Nov 27, 2023)
2-127574029-A-G		MYO7B-related disorder	Benign (Mar 04, 2019)
2-127574057-C-T		not specified	Uncertain significance (Jul 26, 2022)
2-127574058-G-A		not specified	Uncertain significance (Dec 26, 2023)
2-127574069-C-G		MYO7B-related disorder	Benign (Feb 26, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO7B	protein_coding	protein_coding	ENST00000428314	46	101927

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.95e-31	1.00	125236	2	230	125468	0.000925

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.483	1227	1.28e+3	0.962	0.0000817	13741
Missense in Polyphen		438	482.78	0.90724		5304
Synonymous	-0.231	560	553	1.01	0.0000388	4117
Loss of Function	3.94	67	112	0.598	0.00000567	1221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00178	0.00166
Ashkenazi Jewish	0.00131	0.00129
East Asian	0.000781	0.000763
Finnish	0.000232	0.000231
European (Non-Finnish)	0.000975	0.000926
Middle Eastern	0.000781	0.000763
South Asian	0.00171	0.00167
Other	0.000870	0.000818

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. May link the complex to the actin core bundle of microvilli (Probable). {ECO:0000305|PubMed:24725409, ECO:0000305|PubMed:26812018}.

Intolerance Scores

• loftool: 0.203
• rvis_EVS: 1.02
• rvis_percentile_EVS: 90.92

Haploinsufficiency Scores

• pHI: 0.117
• hipred: Y
• hipred_score: 0.600
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.121

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo7b
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: cell differentiation;brush border assembly
• Cellular component: microvillus;brush border;myosin complex;apical cytoplasm
• Molecular function: motor activity;protein binding;ATP binding;actin filament binding