STEAP3-AS1

STEAP3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:119244422-119270714

Links

ENSG00000229867 ∙ ∙ ∙ HGNC:41053 ∙ ∙ ∙ 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 STEAP3-AS1 gene.

• not provided (39 variants)
• Inborn genetic diseases (27 variants)
• Severe congenital hypochromic anemia with ringed sideroblasts (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STEAP3-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)						0
splice region						0
non coding	1		31	21	13	66
Total	1	0	31	21	13

Variants in STEAP3-AS1

This is a list of pathogenic ClinVar variants found in the STEAP3-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
2-119245509-A-G			Likely benign (May 03, 2023)
2-119245512-G-T		not specified	Uncertain significance (Feb 05, 2024)
2-119245547-C-T			Likely benign (Oct 01, 2023)
2-119245571-C-T		STEAP3-related disorder	Likely benign (Aug 07, 2023)
2-119245572-G-A			Likely benign (Sep 01, 2022)
2-119245595-C-T			Likely benign (Nov 12, 2023)
2-119245617-C-T		not specified	Uncertain significance (Dec 13, 2022)
2-119245618-G-A		not specified	Uncertain significance (Jul 20, 2022)
2-119245648-G-A		not specified	Uncertain significance (Jun 05, 2024)
2-119245670-C-A		not specified	Uncertain significance (Jan 19, 2022)
2-119245683-C-T		not specified	Uncertain significance (Oct 27, 2022)
2-119245711-C-A		not specified	Uncertain significance (Jul 06, 2021)
2-119245720-C-T		not specified	Uncertain significance (Sep 29, 2022)
2-119245726-A-G		not specified	Uncertain significance (Dec 05, 2023)
2-119245747-C-T		not specified	Uncertain significance (Jun 07, 2023)
2-119245748-G-A			Benign (Feb 16, 2023)
2-119245796-C-A		Severe congenital hypochromic anemia with ringed sideroblasts	Pathogenic (Dec 15, 2011)
2-119245817-G-A		STEAP3-related disorder	Likely benign (Jan 13, 2020)
2-119245845-C-G		not specified	Uncertain significance (Sep 29, 2022)
2-119245873-G-A		not specified	Uncertain significance (Nov 12, 2021)
2-119245887-G-A		not specified	Uncertain significance (May 23, 2023)
2-119245902-C-A		not specified	Uncertain significance (Dec 06, 2022)
2-119245936-A-G		not specified	Uncertain significance (Jan 23, 2023)
2-119245988-G-C			Uncertain significance (Jan 25, 2024)
2-119247675-G-A		STEAP3-related disorder	Benign (Sep 05, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP