MDC1-AS1

MDC1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:30703067-30713184

Links

ENSG00000224328 ∙ NCBI:106478956 ∙ ∙ HGNC:39764 ∙ ∙ ∙ 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 MDC1-AS1 gene.

• Inborn genetic diseases (56 variants)
• not provided (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MDC1-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			49	11	9	69
Total	0	0	50	11	9

Variants in MDC1-AS1

This is a list of pathogenic ClinVar variants found in the MDC1-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
6-30703174-C-T		not specified	Uncertain significance (Feb 22, 2023)
6-30703175-G-A		not specified	Uncertain significance (Feb 21, 2024)
6-30703210-G-A		not specified	Likely benign (May 23, 2024)
6-30703222-A-G		not specified	Uncertain significance (Jul 30, 2023)
6-30703429-T-C			Benign (Jun 15, 2018)
6-30703435-C-T		not specified	Uncertain significance (May 21, 2024)
6-30703452-C-T			Benign (Nov 01, 2023)
6-30703467-C-T		not specified	Likely benign (Jun 28, 2022)
6-30703639-C-G		not specified	Uncertain significance (Jun 30, 2022)
6-30703662-C-T		not specified	Uncertain significance (Mar 30, 2024)
6-30703749-T-C		not specified	Uncertain significance (Jun 13, 2022)
6-30703751-C-T		not specified	Uncertain significance (Feb 15, 2023)
6-30703829-G-A		not specified	Uncertain significance (Sep 21, 2023)
6-30703863-C-T		not specified	Uncertain significance (Jul 26, 2021)
6-30703890-C-T		not specified	Uncertain significance (Mar 20, 2023)
6-30703940-G-A		not specified	Uncertain significance (Oct 06, 2021)
6-30703940-G-C		not specified	Uncertain significance (May 13, 2024)
6-30703970-T-A		not specified	Likely benign (Jun 28, 2022)
6-30704051-G-A			Uncertain significance (Jan 12, 2022)
6-30704051-G-T		not specified	Uncertain significance (Feb 01, 2023)
6-30704104-C-T			Likely benign (Jun 15, 2018)
6-30704106-G-A		not specified	Uncertain significance (Sep 16, 2021)
6-30704252-C-T		not specified	Uncertain significance (May 16, 2024)
6-30704259-T-G		not specified	Uncertain significance (Apr 04, 2023)
6-30704282-G-A		not specified	Uncertain significance (Dec 07, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP