SPECC1L-ADORA2A

SPECC1L-ADORA2A readthrough (NMD candidate)

Basic information

Region (hg38): 22:24270898-24442356

Links

ENSG00000258555 ∙ NCBI:101730217 ∙ ∙ HGNC:49185 ∙ ∙ ∙ 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 SPECC1L-ADORA2A gene.

• not provided (156 variants)
• Inborn genetic diseases (47 variants)
• Teebi hypertelorism syndrome (17 variants)
• not specified (13 variants)
• Teebi hypertelorism syndrome 1 (11 variants)
• SPECC1L-related condition (11 variants)
• Autosomal dominant Opitz G/BBB syndrome (8 variants)
• Oculomaxillofacial dysostosis (5 variants)
• SPECC1L-related syndrome (2 variants)
• Oculomaxillofacial dysostosis;Teebi hypertelorism syndrome 1 (2 variants)
• Teebi hypertelorism syndrome 1;Oculomaxillofacial dysostosis (2 variants)
• Craniosynostosis syndrome (2 variants)
• Teebi hypertelorism syndrome;Autosomal dominant Opitz G/BBB syndrome (1 variants)
• Congenital omphalocele (1 variants)
• Malignant tumor of prostate (1 variants)
• Intellectual disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPECC1L-ADORA2A gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7	6	1	14
Total	0	0	7	6	1

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.402

Gene ontology

• Biological process: actin cytoskeleton organization
• Cellular component: microtubule organizing center;filamentous actin