MCPH1-AS1

MCPH1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:6617310-6708290

Links

ENSG00000249898 ∙ NCBI:100507530 ∙ ∙ HGNC:51655 ∙ ∙ ∙ 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 MCPH1-AS1 gene.

• not provided (75 variants)
• Microcephaly 1, primary, autosomal recessive (45 variants)
• not specified (20 variants)
• Inborn genetic diseases (9 variants)
• Autosomal recessive primary microcephaly (3 variants)
• Primary Microcephaly, Recessive (1 variants)
• Intellectual disability (1 variants)
• MCPH1-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCPH1-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		3	2	2	8
splice region						0
non coding		4	52	28	19	103
Total	1	4	55	30	21

Highest pathogenic variant AF is 0.00000657

Variants in MCPH1-AS1

This is a list of pathogenic ClinVar variants found in the MCPH1-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
8-6621205-C-A			Benign (Jul 09, 2018)
8-6621431-TTCTA-T			Likely benign (Jan 08, 2024)
8-6621433-CTA-C			Likely benign (Sep 29, 2023)
8-6621434-T-C			Likely benign (Nov 24, 2023)
8-6621434-TA-CG			Likely benign (Jan 11, 2024)
8-6621435-A-C			Likely benign (Oct 25, 2023)
8-6621435-A-G		not specified • Microcephaly 1, primary, autosomal recessive	Benign (Feb 01, 2024)
8-6621435-AT-GC		Microcephaly 1, primary, autosomal recessive	Likely benign (Jan 27, 2024)
8-6621435-ATC-A			Likely benign (Mar 18, 2023)
8-6621437-C-G			Likely benign (Mar 07, 2023)
8-6621437-CTCTG-C			Likely benign (Mar 14, 2023)
8-6621439-C-G		not specified • Microcephaly 1, primary, autosomal recessive	Benign (Feb 01, 2024)
8-6621439-C-T			Likely benign (Oct 30, 2023)
8-6621440-T-C			Likely benign (Oct 15, 2023)
8-6621441-G-A			Likely benign (Sep 29, 2023)
8-6621442-T-G			Likely benign (Apr 23, 2021)
8-6621449-C-CACAGCTGTGCCGAAGCGAGTGCCACTTGTCTGCAGGGCCGT			Uncertain significance (Apr 06, 2022)
8-6621453-G-T		MCPH1-related disorder	Likely pathogenic (Feb 09, 2023)
8-6621453-GC-TT			Uncertain significance (Oct 07, 2022)
8-6621460-C-T		Microcephaly 1, primary, autosomal recessive	Conflicting classifications of pathogenicity (Dec 11, 2023)
8-6621462-A-G			Likely benign (Jul 01, 2024)
8-6621465-C-T		not specified • Microcephaly 1, primary, autosomal recessive	Benign (Feb 01, 2024)
8-6621483-A-C			Likely benign (Jul 01, 2024)
8-6621486-G-A			Likely benign (Feb 16, 2023)
8-6621488-C-G		Inborn genetic diseases	Uncertain significance (Jun 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP