ADM5

adrenomedullin 5 (putative)

Basic information

Region (hg38): 19:49689594-49690575

Previous symbols: [ "C19orf76" ]

Links

ENSG00000224420 ∙ NCBI:199800 ∙ ∙ HGNC:27293 ∙ Uniprot:C9JUS6 ∙ 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 ADM5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADM5 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in ADM5

This is a list of pathogenic ClinVar variants found in the ADM5 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-49689883-G-T		not specified	Uncertain significance (Jan 04, 2024)
19-49690126-C-T		not specified	Uncertain significance (Jul 27, 2024)
19-49690135-G-A		not specified	Uncertain significance (Oct 24, 2023)
19-49690184-G-C		not specified	Uncertain significance (Jan 18, 2025)
19-49690190-A-G		not specified	Uncertain significance (Jun 10, 2024)
19-49690198-T-C		not specified	Uncertain significance (Jun 13, 2023)
19-49690243-C-G		not specified	Uncertain significance (Nov 27, 2024)
19-49690264-G-T		not specified	Uncertain significance (Mar 29, 2024)
19-49690287-G-A		not specified	Uncertain significance (Jun 18, 2021)
19-49690299-C-T		not specified	Uncertain significance (Oct 01, 2024)
19-49690300-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-49690300-G-T		not specified	Uncertain significance (Dec 20, 2023)
19-49690355-G-C		not specified	Uncertain significance (Dec 14, 2023)
19-49690363-C-T		not specified	Uncertain significance (Jun 17, 2024)
19-49690366-G-C		not specified	Uncertain significance (Oct 06, 2021)
19-49690372-C-T		not specified	Uncertain significance (Feb 12, 2025)
19-49690425-C-T		not specified	Uncertain significance (Dec 18, 2023)
19-49690428-A-T		not specified	Uncertain significance (Sep 23, 2023)
19-49690473-C-A		not specified	Uncertain significance (Feb 08, 2025)
19-49690482-G-C		not specified	Uncertain significance (Feb 24, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADM5	protein_coding	protein_coding	ENST00000420022	2	1912

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.396	0.482	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.904	66	90.2	0.732	0.00000490	932
Missense in Polyphen		22	29.123	0.7554		274
Synonymous	1.10	33	42.1	0.783	0.00000235	353
Loss of Function	0.937	0	1.02	0.00	4.35e-8	12

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

• Function: FUNCTION: Probable non-functional remnant of adrenomedullin-5. {ECO:0000269|PubMed:18434369}.

Intolerance Scores

• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.81

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;extracellular region
• Molecular function: molecular_function