SCAT8

S-phase cancer associated transcript 8, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 6:63805797-63822975

Links

ENSG00000236345 ∙ ∙ ∙ HGNC:40967 ∙ ∙ ∙ 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 SCAT8 gene.

• not provided (6 variants)
• Retinitis pigmentosa 25 (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCAT8 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)						0
splice region						0
non coding	9	10	19	36	2	76
Total	9	10	19	36	2

Variants in SCAT8

This is a list of pathogenic ClinVar variants found in the SCAT8 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-63806094-C-CT			Likely benign (May 12, 2021)
6-63806170-G-C			Likely benign (Aug 04, 2023)
6-63806174-G-T			Likely benign (Feb 21, 2023)
6-63806177-C-T			Likely benign (Dec 19, 2023)
6-63806179-G-A		Retinitis pigmentosa	Conflicting classifications of pathogenicity (Oct 20, 2023)
6-63806180-T-G			Likely benign (Aug 28, 2024)
6-63806181-T-G			Likely benign (Jan 04, 2024)
6-63806182-A-T			Likely benign (Feb 25, 2022)
6-63806183-A-G			Likely benign (Aug 14, 2023)
6-63806194-G-T			Likely benign (Oct 10, 2018)
6-63806196-C-T			Uncertain significance (Oct 19, 2021)
6-63806200-C-T			Likely benign (Jan 28, 2022)
6-63806207-G-C		Retinitis pigmentosa 25 • Retinal dystrophy	Conflicting classifications of pathogenicity (Jan 15, 2024)
6-63806208-T-TA		Retinal dystrophy • Retinitis pigmentosa 25	Pathogenic/Likely pathogenic (Mar 04, 2024)
6-63806209-A-T			Uncertain significance (Jun 20, 2022)
6-63806215-T-TA			Pathogenic (Jul 28, 2023)
6-63806220-A-C			Uncertain significance (Aug 27, 2024)
6-63806223-T-C			Uncertain significance (Jan 13, 2022)
6-63806224-A-AT		Retinitis pigmentosa 25	Pathogenic (Jun 08, 2022)
6-63806229-G-A		Retinitis pigmentosa 25	Likely pathogenic (Oct 27, 2021)
6-63806230-C-A			Likely benign (May 08, 2021)
6-63806232-G-A		Retinitis pigmentosa	Benign (Oct 05, 2024)
6-63806233-T-C			Likely benign (Mar 03, 2022)
6-63806235-C-T		Retinitis pigmentosa 25	Uncertain significance (Jul 14, 2021)
6-63806236-T-C			Likely benign (Apr 13, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP