BMS1P4-AGAP5

BMS1P4-AGAP5 readthrough

Basic information

Region (hg38): 10:73674295-73730466

Links

ENSG00000242288 ∙ NCBI:113939925 ∙ ∙ HGNC:55636 ∙ ∙ ∙ 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 BMS1P4-AGAP5 gene.

• Inborn genetic diseases (25 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BMS1P4-AGAP5 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		2
splice region						0
non coding			23	1		24
Total	0	0	24	2	0

Variants in BMS1P4-AGAP5

This is a list of pathogenic ClinVar variants found in the BMS1P4-AGAP5 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-73674610-C-T		not specified	Uncertain significance (Feb 15, 2025)
10-73674611-G-T		not specified	Uncertain significance (Jul 16, 2024)
10-73674636-A-T		not specified	Uncertain significance (Oct 07, 2024)
10-73674639-T-G		not specified	Uncertain significance (Nov 01, 2022)
10-73674657-G-A		not specified	Uncertain significance (Aug 13, 2021)
10-73674666-C-T		not specified	Uncertain significance (Jun 25, 2024)
10-73674670-C-T		not specified	Uncertain significance (Jan 05, 2022)
10-73674675-G-T		not specified	Uncertain significance (May 27, 2022)
10-73674681-G-C		not specified	Uncertain significance (Dec 16, 2023)
10-73674791-G-C		not specified	Uncertain significance (Aug 08, 2022)
10-73674838-C-T		not specified	Uncertain significance (Dec 02, 2024)
10-73674874-C-T		not specified	Uncertain significance (Jul 09, 2021)
10-73674913-T-C		not specified	Uncertain significance (Dec 10, 2024)
10-73674957-C-T		not specified	Uncertain significance (Dec 01, 2022)
10-73674958-G-A		not specified	Uncertain significance (Jan 20, 2025)
10-73674967-G-A		not specified	Uncertain significance (Feb 17, 2024)
10-73674989-C-A		not specified	Uncertain significance (Feb 12, 2025)
10-73675008-T-C		not specified	Uncertain significance (Feb 13, 2024)
10-73675021-T-G		not specified	Uncertain significance (Jun 17, 2024)
10-73675035-C-G		not specified	Uncertain significance (Dec 08, 2023)
10-73675084-C-A		not specified	Uncertain significance (Jun 04, 2024)
10-73675135-G-C		not specified	Uncertain significance (Apr 24, 2024)
10-73675137-C-G		not specified	Uncertain significance (Feb 07, 2023)
10-73675239-C-T		not specified	Uncertain significance (May 13, 2024)
10-73675240-G-A		not specified	Uncertain significance (Oct 24, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP