SYNM-AS2

SYNM antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 15:99128832-99131806

Links

ENSG00000261054 ∙ ∙ ∙ HGNC:56228 ∙ ∙ ∙ 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 SYNM-AS2 gene.

• not provided (26 variants)
• Inborn genetic diseases (13 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYNM-AS2 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			12	10	18	40
Total	0	0	12	10	18

Variants in SYNM-AS2

This is a list of pathogenic ClinVar variants found in the SYNM-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-99129394-C-T		SYNM-related disorder • not specified	Conflicting classifications of pathogenicity (Aug 26, 2024)
15-99129412-G-A		SYNM-related disorder	Likely benign (Aug 10, 2020)
15-99129422-A-T		SYNM-related disorder	Benign (Oct 21, 2019)
15-99129444-A-G		not specified	Uncertain significance (Jul 19, 2022)
15-99129545-A-T		not specified	Uncertain significance (Sep 21, 2021)
15-99129745-G-A			Likely benign (Feb 01, 2024)
15-99129767-C-T			Benign (Dec 31, 2019)
15-99129812-G-A			Benign (Mar 03, 2015)
15-99129814-A-C		not specified	Uncertain significance (Mar 29, 2023)
15-99129822-C-T			Benign (Dec 31, 2019)
15-99129955-C-T		SYNM-related disorder	Benign (May 17, 2019)
15-99130022-C-G		not specified	Uncertain significance (Sep 20, 2023)
15-99130032-A-G		not specified	Uncertain significance (Dec 07, 2024)
15-99130059-C-T		SYNM-related disorder	Benign (Oct 17, 2019)
15-99130130-G-C		not specified	Uncertain significance (Feb 05, 2024)
15-99130137-C-T		not specified	Uncertain significance (Oct 26, 2024)
15-99130143-G-T		not specified	Uncertain significance (Aug 17, 2022)
15-99130190-G-A			Benign (Apr 04, 2018)
15-99130199-A-G		SYNM-related disorder	Likely benign (Nov 15, 2022)
15-99130216-G-A		not specified	Uncertain significance (Aug 08, 2023)
15-99130239-G-T		not specified	Uncertain significance (Sep 30, 2024)
15-99130270-C-T		SYNM-related disorder	Likely benign (Jan 21, 2021)
15-99130271-C-T			Likely benign (Aug 21, 2018)
15-99130272-G-A			Benign (Dec 31, 2019)
15-99130291-C-G		not specified	Likely benign (Aug 26, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP