SYNM-AS1

SYNM antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:98954149-99105877

Links

ENSG00000259475 ∙ NCBI:105371016 ∙ ∙ HGNC:55421 ∙ ∙ ∙ 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-AS1 gene.

• Growth delay due to insulin-like growth factor I resistance (350 variants)
• not provided (73 variants)
• Inborn genetic diseases (38 variants)
• IGF1R-related condition (2 variants)
• not specified (1 variants)
• Short stature (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYNM-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)			1	1		2
splice region						0
non coding			318	73	51	442
Total	0	0	319	74	51

Variants in SYNM-AS1

This is a list of pathogenic ClinVar variants found in the SYNM-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
15-98957043-C-T			Likely benign (Oct 17, 2023)
15-98957044-G-A			Likely benign (Jan 25, 2024)
15-98957055-C-T			Uncertain significance (Oct 04, 2022)
15-98957057-G-A		Growth delay due to insulin-like growth factor I resistance	Benign/Likely benign (Jan 10, 2024)
15-98957071-A-C			Uncertain significance (Jan 01, 2024)
15-98957073-G-A			Uncertain significance (May 28, 2023)
15-98957074-C-T			Uncertain significance (Sep 05, 2023)
15-98957075-G-A			Uncertain significance (May 17, 2023)
15-98957089-T-C			Uncertain significance (Aug 10, 2022)
15-98957091-T-C			Likely benign (May 22, 2022)
15-98957095-C-A		Inborn genetic diseases	Uncertain significance (Jun 21, 2021)
15-98957096-C-A			Uncertain significance (Oct 04, 2022)
15-98957101-A-C		IGF1R-related disorder	Uncertain significance (Aug 02, 2023)
15-98957101-A-G		Growth delay due to insulin-like growth factor I resistance	Uncertain significance (Apr 04, 2024)
15-98957101-A-T		Growth delay due to insulin-like growth factor I resistance	Uncertain significance (Jan 12, 2018)
15-98957104-A-T			Uncertain significance (Sep 08, 2021)
15-98957106-G-GCCTT			Uncertain significance (Feb 17, 2022)
15-98957115-C-T			Likely benign (Dec 13, 2023)
15-98957116-C-A			Uncertain significance (Jan 11, 2023)
15-98957123-T-C			Uncertain significance (Sep 22, 2023)
15-98957124-C-G			Uncertain significance (Feb 16, 2023)
15-98957126-T-G		not specified	Uncertain significance (Aug 23, 2024)
15-98957139-AGAG-A			Uncertain significance (Jul 03, 2022)
15-98957146-AT-A		Growth delay due to insulin-like growth factor I resistance	Uncertain significance (Oct 25, 2018)
15-98957147-TGGAGCCTGGCTTCCG-T			Uncertain significance (Oct 09, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP