ADAM7

ADAM metallopeptidase domain 7, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 8:24440930-24526970

Links

ENSG00000069206 ∙ NCBI:8756 ∙ OMIM:607310 ∙ HGNC:214 ∙ Uniprot:Q9H2U9 ∙ 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 ADAM7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM7 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			47	2		49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	47	2	0

Variants in ADAM7

This is a list of pathogenic ClinVar variants found in the ADAM7 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-24441140-T-C		not specified	Uncertain significance (Dec 28, 2023)
8-24463884-A-T		not specified	Uncertain significance (Aug 02, 2022)
8-24463927-A-C		not specified	Uncertain significance (May 04, 2022)
8-24463949-C-A		not specified	Uncertain significance (Dec 13, 2023)
8-24463958-A-G		not specified	Uncertain significance (May 29, 2024)
8-24466805-C-A		not specified	Uncertain significance (Feb 28, 2023)
8-24466910-T-A		not specified	Uncertain significance (Nov 18, 2022)
8-24466980-A-G		not specified	Uncertain significance (May 28, 2024)
8-24468771-T-C		not specified	Uncertain significance (Dec 20, 2023)
8-24472122-C-CA		not specified	Benign (Apr 02, 2020)
8-24482227-T-C		not specified	Uncertain significance (Aug 11, 2021)
8-24482240-A-T		not specified	Uncertain significance (Jun 29, 2023)
8-24482244-C-T		not specified	Uncertain significance (Sep 25, 2023)
8-24482301-G-A		not specified	Uncertain significance (Jan 19, 2024)
8-24485287-C-T		not specified	Uncertain significance (Dec 06, 2022)
8-24485320-G-A		not specified	Uncertain significance (Nov 27, 2023)
8-24487208-A-C		not specified	Uncertain significance (Apr 07, 2023)
8-24487212-T-C		not specified	Uncertain significance (Apr 07, 2022)
8-24487255-G-A		not specified	Uncertain significance (Mar 02, 2023)
8-24489163-C-T		not specified	Uncertain significance (May 29, 2024)
8-24489175-T-C		not specified	Uncertain significance (Mar 13, 2023)
8-24489221-A-G		not specified	Uncertain significance (Nov 21, 2023)
8-24489233-G-A		not specified	Uncertain significance (Sep 16, 2021)
8-24489238-C-T		not specified	Likely benign (Oct 12, 2021)
8-24489245-T-C		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM7	protein_coding	protein_coding	ENST00000175238	21	86041

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.19e-19	0.122	125067	5	673	125745	0.00270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.505	427	399	1.07	0.0000196	4993
Missense in Polyphen		142	141.27	1.0051		1857
Synonymous	-0.147	143	141	1.02	0.00000757	1316
Loss of Function	1.38	35	45.0	0.778	0.00000215	602

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00900	0.00898
Ashkenazi Jewish	0.00576	0.00577
East Asian	0.00388	0.00387
Finnish	0.00639	0.00640
European (Non-Finnish)	0.000758	0.000747
Middle Eastern	0.00388	0.00387
South Asian	0.000428	0.000392
Other	0.00316	0.00310

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.0897

Intolerance Scores

• loftool: 0.987
• rvis_EVS: 0.12
• rvis_percentile_EVS: 62.21

Haploinsufficiency Scores

• pHI: 0.326
• 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: 0.0820

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam7
• Phenotype: immune system phenotype; reproductive system phenotype; cellular phenotype

Gene ontology

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