MCPH1-DT

MCPH1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 8:6315551-6407308

Links

ENSG00000246089 ∙ NCBI:100287015 ∙ ∙ HGNC:55599 ∙ ∙ ∙ 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-DT gene.

• not provided (23 variants)
• Microcephaly 1, primary, autosomal recessive (3 variants)
• Primary Microcephaly, Recessive (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCPH1-DT 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	1		6	9	9	25
Total	1	0	6	10	9

Variants in MCPH1-DT

This is a list of pathogenic ClinVar variants found in the MCPH1-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
8-6406286-T-C			Benign (Jun 16, 2018)
8-6406295-G-C			Benign (Jun 16, 2018)
8-6406319-C-G			Likely benign (Nov 22, 2018)
8-6406364-C-G			Likely benign (Mar 08, 2019)
8-6406391-A-T			Benign (Jul 08, 2018)
8-6406418-C-T			Benign (Jun 16, 2018)
8-6406426-C-G			Benign (Jun 16, 2018)
8-6406432-G-C			Benign (Jul 08, 2018)
8-6406494-C-T			Likely benign (Feb 05, 2019)
8-6406495-G-C			Likely benign (Jul 03, 2018)
8-6406517-T-G			Likely benign (Aug 24, 2019)
8-6406522-C-T			Likely benign (Jan 06, 2020)
8-6406552-G-T			Benign (Jul 17, 2018)
8-6406587-C-T			Likely benign (Sep 11, 2018)
8-6406609-G-C		Primary Microcephaly, Recessive	Benign (Jun 16, 2018)
8-6406627-A-C		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)
8-6406629-G-A		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Apr 27, 2017)
8-6406658-G-C			Uncertain significance (May 18, 2018)
8-6406660-C-T		MCPH1-related disorder	Likely benign (Oct 14, 2020)
8-6406663-C-G		MCPH1-related disorder	Likely benign (Apr 26, 2019)
8-6406672-C-T			Uncertain significance (Oct 10, 2021)
8-6406673-G-A			Likely benign (Jul 08, 2023)
8-6406674-G-T			Uncertain significance (Aug 24, 2023)
8-6406676-C-G			Likely benign (Dec 04, 2023)
8-6406676-C-T			Benign/Likely benign (Jan 18, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP