MAP3K20-AS1

MAP3K20 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:173166446-173282036

Previous symbols: [ "MLK7-AS1" ]

Links

ENSG00000238133 ∙ NCBI:339751 ∙ ∙ HGNC:27935 ∙ ∙ ∙ 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 MAP3K20-AS1 gene.

• not provided (320 variants)
• Myopathy, centronuclear, 6, with fiber-type disproportion (8 variants)
• Split-foot malformation-mesoaxial polydactyly syndrome (8 variants)
• Inborn genetic diseases (4 variants)
• not specified (2 variants)
• MAP3K20-related condition (1 variants)
• Myopathy, centronuclear, 6, with fiber-type disproportion;Split-foot malformation-mesoaxial polydactyly syndrome (1 variants)
• See cases (1 variants)
• Split hand-foot malformation 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP3K20-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)					1	1
splice region						0
non coding	9	2	175	94	46	326
Total	9	2	175	94	47

Highest pathogenic variant AF is 0.000415

Variants in MAP3K20-AS1

This is a list of pathogenic ClinVar variants found in the MAP3K20-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
2-173169786-C-T			Likely benign (Jan 30, 2024)
2-173169801-A-G			Likely benign (Oct 06, 2023)
2-173169819-T-C			Likely benign (Jun 20, 2022)
2-173169852-T-C			Uncertain significance (Apr 06, 2022)
2-173169879-T-C			Likely benign (Feb 21, 2023)
2-173182836-T-A			Likely benign (Sep 27, 2021)
2-173182837-C-T			Likely benign (Oct 20, 2023)
2-173182840-T-C			Likely benign (Apr 22, 2021)
2-173182842-C-G			Likely benign (Jun 20, 2022)
2-173182851-T-C			Benign (Jun 01, 2024)
2-173182855-A-G			Likely benign (Nov 16, 2021)
2-173182876-C-G			Likely benign (Jun 28, 2023)
2-173182886-A-AT		Myopathy, centronuclear, 6, with fiber-type disproportion • Split-foot malformation-mesoaxial polydactyly syndrome	Pathogenic/Likely pathogenic (Jul 28, 2022)
2-173182888-T-G			Uncertain significance (May 15, 2023)
2-173182905-A-C			Uncertain significance (May 12, 2022)
2-173182932-C-T			Uncertain significance (Aug 10, 2022)
2-173182962-A-T			Likely benign (Aug 08, 2022)
2-173182971-A-G			Uncertain significance (Jun 01, 2022)
2-173182973-A-G			Uncertain significance (Jun 03, 2022)
2-173187539-TTTC-T			Uncertain significance (Dec 17, 2021)
2-173187550-G-C			Likely benign (Dec 01, 2021)
2-173187564-A-G			Uncertain significance (Aug 02, 2021)
2-173187581-G-A			Uncertain significance (Jan 14, 2022)
2-173187610-C-G			Likely benign (Apr 06, 2023)
2-173187616-A-C			Likely benign (Nov 10, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP