MYADML2

myeloid associated differentiation marker like 2, the group of MARVEL domain containing

Basic information

Region (hg38): 17:81939645-81947233

Links

ENSG00000185105 ∙ NCBI:255275 ∙ ∙ HGNC:34548 ∙ Uniprot:A6NDP7 ∙ 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 MYADML2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYADML2 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				1		1
missense			33	2		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	3	0

Variants in MYADML2

This is a list of pathogenic ClinVar variants found in the MYADML2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-81940832-C-T		not specified	Uncertain significance (Nov 07, 2022)
17-81940837-C-T		not specified	Uncertain significance (Aug 09, 2021)
17-81940862-C-A			Uncertain significance (Jun 21, 2018)
17-81940871-A-C		not specified	Uncertain significance (Jan 30, 2024)
17-81940888-T-C		not specified	Uncertain significance (Nov 30, 2021)
17-81940907-C-A		not specified	Uncertain significance (Mar 25, 2024)
17-81940913-G-T		not specified	Uncertain significance (Oct 12, 2021)
17-81940924-G-T		not specified	Uncertain significance (Dec 06, 2021)
17-81940944-G-A			Likely benign (Oct 01, 2022)
17-81940944-G-T		not specified	Uncertain significance (Oct 12, 2021)
17-81941111-C-T		not specified	Uncertain significance (Apr 13, 2022)
17-81941114-C-T		not specified	Uncertain significance (Jan 30, 2024)
17-81941131-C-T		not specified	Uncertain significance (Oct 26, 2022)
17-81941161-G-A		not specified	Uncertain significance (Jun 07, 2024)
17-81941176-C-A		not specified	Uncertain significance (Aug 20, 2023)
17-81941176-C-T		not specified	Uncertain significance (Jun 24, 2022)
17-81941177-C-T		not specified	Uncertain significance (Nov 01, 2022)
17-81941184-G-C		not specified	Uncertain significance (Dec 16, 2021)
17-81941222-C-T		not specified	Uncertain significance (May 07, 2024)
17-81941234-C-T		not specified	Uncertain significance (Mar 31, 2022)
17-81941264-T-C		not specified	Uncertain significance (Oct 17, 2023)
17-81941282-C-T		not specified	Uncertain significance (Nov 21, 2022)
17-81941287-C-T		not specified	Uncertain significance (Nov 21, 2022)
17-81941288-G-A		not specified	Uncertain significance (Jul 19, 2022)
17-81941315-C-T		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYADML2	protein_coding	protein_coding	ENST00000409745	1	7589

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000114	0.391	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.615	185	210	0.881	0.0000150	1913
Missense in Polyphen		32	53.598	0.59704		562
Synonymous	0.727	96	106	0.910	0.00000829	713
Loss of Function	0.0919	6	6.25	0.960	2.69e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.41

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.296

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myadml2

Gene ontology

• Cellular component: cytoplasm;integral component of membrane