MMP20-AS1

MMP20 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:102606916-102628070

Links

ENSG00000256916 ∙ NCBI:101928477 ∙ ∙ HGNC:56362 ∙ ∙ ∙ 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 MMP20-AS1 gene.

• Amelogenesis imperfecta hypomaturation type 2A2 (37 variants)
• not provided (25 variants)
• Inborn genetic diseases (11 variants)
• not specified (2 variants)
• MMP20-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMP20-AS1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	5	2	33	7	17	64
Total	5	2	33	7	17

Highest pathogenic variant AF is 0.0000197

Variants in MMP20-AS1

This is a list of pathogenic ClinVar variants found in the MMP20-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-102608687-T-C			Benign (Nov 12, 2018)
11-102608691-C-CAAA			Benign (Nov 12, 2018)
11-102608692-C-CA			Benign (Nov 12, 2018)
11-102608807-A-G			Benign (Jun 19, 2021)
11-102608818-T-C			Benign (Nov 12, 2018)
11-102608824-T-C			Benign (Nov 12, 2018)
11-102608925-TAATAATCTTACCGT-CTGG		Amelogenesis imperfecta hypomaturation type 2A2	Pathogenic (Jun 11, 2020)
11-102608938-G-A		Amelogenesis imperfecta hypomaturation type 2A2	Benign (Jun 09, 2021)
11-102608940-A-G		Amelogenesis imperfecta hypomaturation type 2A2	Uncertain significance (Jan 13, 2018)
11-102608980-G-A			Likely benign (Jul 04, 2018)
11-102608991-G-A		Amelogenesis imperfecta hypomaturation type 2A2 • Inborn genetic diseases	Uncertain significance (Jun 10, 2022)
11-102609025-T-C		Amelogenesis imperfecta hypomaturation type 2A2	Uncertain significance (Jan 13, 2018)
11-102609037-G-A		Amelogenesis imperfecta hypomaturation type 2A2	Uncertain significance (Jan 13, 2018)
11-102609038-G-T		Amelogenesis imperfecta hypomaturation type 2A2	Pathogenic (Jun 11, 2020)
11-102609058-A-C		Amelogenesis imperfecta hypomaturation type 2A2	Uncertain significance (Feb 23, 2023)
11-102609070-A-T		Amelogenesis imperfecta hypomaturation type 2A2	Pathogenic (Nov 01, 2005)
11-102609078-C-T		Inborn genetic diseases	Uncertain significance (Dec 12, 2023)
11-102609081-C-A		Inborn genetic diseases	Uncertain significance (Jan 17, 2024)
11-102609081-C-T		Amelogenesis imperfecta hypomaturation type 2A2	Uncertain significance (Jan 13, 2018)
11-102609082-G-A		Amelogenesis imperfecta hypomaturation type 2A2	Uncertain significance (Jan 13, 2018)
11-102609091-A-T		Inborn genetic diseases	Uncertain significance (Dec 01, 2023)
11-102609690-G-A			Benign (Nov 12, 2018)
11-102609897-A-G		not specified	Likely benign (-)
11-102609910-G-A		Amelogenesis imperfecta hypomaturation type 2A2	Uncertain significance (Apr 27, 2017)
11-102609913-C-G		Amelogenesis imperfecta hypomaturation type 2A2	Uncertain significance (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP