ADAM29

ADAM metallopeptidase domain 29, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 4:174829667-174978180

Links

ENSG00000168594 ∙ NCBI:11086 ∙ OMIM:604778 ∙ HGNC:207 ∙ Uniprot:Q9UKF5 ∙ 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 ADAM29 gene.

• Inborn genetic diseases (29 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM29 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				6		6
missense			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	8	0

Variants in ADAM29

This is a list of pathogenic ClinVar variants found in the ADAM29 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-174975532-A-G		not specified	Likely benign (Jun 06, 2022)
4-174975641-T-C		not specified	Uncertain significance (Dec 06, 2022)
4-174975649-A-G		not specified	Uncertain significance (Jul 16, 2021)
4-174975658-G-A		not specified	Uncertain significance (Jun 21, 2021)
4-174975677-G-C		not specified	Uncertain significance (Nov 13, 2023)
4-174975707-A-G		not specified	Uncertain significance (May 31, 2023)
4-174975718-A-T		not specified	Uncertain significance (Jan 26, 2022)
4-174975730-G-A		not specified	Uncertain significance (Jan 06, 2023)
4-174975835-G-C		not specified	Uncertain significance (Dec 20, 2023)
4-174975988-G-A		not specified	Likely benign (Sep 17, 2021)
4-174975992-A-G		not specified	Uncertain significance (Nov 22, 2021)
4-174976153-C-G		not specified	Uncertain significance (Feb 28, 2024)
4-174976324-C-T		not specified	Uncertain significance (Jun 28, 2022)
4-174976358-C-T		not specified	Uncertain significance (Apr 06, 2022)
4-174976370-A-C		not specified	Uncertain significance (Dec 12, 2022)
4-174976457-G-A		not specified	Uncertain significance (Nov 13, 2023)
4-174976466-C-A		not specified	Uncertain significance (May 31, 2023)
4-174976508-T-C		not specified	Uncertain significance (May 30, 2023)
4-174976634-G-A		not specified	Uncertain significance (Oct 19, 2021)
4-174976835-G-A		not specified	Uncertain significance (Sep 20, 2023)
4-174977027-G-A		not specified	Uncertain significance (Mar 24, 2023)
4-174977065-A-G		not specified	Uncertain significance (Aug 02, 2021)
4-174977113-C-T		not specified	Uncertain significance (Sep 12, 2023)
4-174977418-C-A		not specified	Uncertain significance (Jan 04, 2022)
4-174977435-A-T		not specified	Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM29	protein_coding	protein_coding	ENST00000359240	1	148513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.206	456	444	1.03	0.0000221	5457
Missense in Polyphen		88	117.24	0.75058		1439
Synonymous	-0.748	167	155	1.08	0.00000761	1517
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in spermatogenesis and fertilization. Seems to be a non catalytic metalloprotease-like protein.

Recessive Scores

• pRec: 0.0958

Intolerance Scores

• loftool: 0.967
• rvis_EVS: 0.11
• rvis_percentile_EVS: 62.14

Haploinsufficiency Scores

• pHI: 0.0909
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.293

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam29

Gene ontology

• Biological process: proteolysis;spermatogenesis
• Cellular component: integral component of plasma membrane
• Molecular function: metalloendopeptidase activity;metallopeptidase activity