TM4SF19-DYNLT2B

TM4SF19-DYNLT2B readthrough (NMD candidate)

Basic information

Region (hg38): 3:196316082-196338373

Previous symbols: [ "TM4SF19-TCTEX1D2" ]

Links

ENSG00000273331 ∙ NCBI:100534611 ∙ ∙ HGNC:49190 ∙ ∙ ∙ 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 TM4SF19-DYNLT2B gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TM4SF19-DYNLT2B 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
splice region			1			1
non coding	1		32	10	5	48
Total	1	0	33	10	5

Highest pathogenic variant AF is 0.0000329

Variants in TM4SF19-DYNLT2B

This is a list of pathogenic ClinVar variants found in the TM4SF19-DYNLT2B region.

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

Position	Type	Phenotype	Significance	ClinVar
3-196316085-T-G			Likely benign (Aug 19, 2023)
3-196316184-T-C			Uncertain significance (Feb 02, 2022)
3-196316204-A-G			Likely benign (May 07, 2023)
3-196316225-C-T			Likely benign (Aug 05, 2021)
3-196316232-C-T			Uncertain significance (Oct 13, 2022)
3-196316247-T-C			Likely benign (Jul 29, 2023)
3-196316347-A-AT			Benign (May 19, 2021)
3-196317798-C-G			Benign (May 15, 2021)
3-196317854-C-T			Benign (May 15, 2021)
3-196318023-G-C		Short-rib thoracic dysplasia 17 with or without polydactyly	Benign (Jan 31, 2024)
3-196318030-C-G			Likely benign (Oct 04, 2022)
3-196318034-A-G		Short-rib thoracic dysplasia 17 with or without polydactyly	Uncertain significance (Mar 17, 2024)
3-196318035-C-CCCG			Uncertain significance (Aug 09, 2022)
3-196318038-G-C		Short-rib thoracic dysplasia 17 with or without polydactyly	Pathogenic (Jan 12, 2024)
3-196318048-G-GA			Pathogenic (Mar 16, 2022)
3-196318053-C-G			Uncertain significance (Mar 16, 2022)
3-196318053-C-AG		Short-rib thoracic dysplasia 17 with or without polydactyly	Pathogenic (Jan 12, 2024)
3-196318080-G-T			Uncertain significance (Mar 22, 2022)
3-196318096-C-T		DYNLT2B-related disorder	Benign (Jan 20, 2024)
3-196318107-G-A		not specified	Uncertain significance (Apr 09, 2024)
3-196318117-G-A			Uncertain significance (Aug 23, 2022)
3-196318117-G-T			Uncertain significance (Mar 20, 2022)
3-196318118-C-T		Short-rib thoracic dysplasia 17 with or without polydactyly	Uncertain significance (Jul 26, 2019)
3-196318122-C-A			Uncertain significance (May 03, 2022)
3-196318125-A-C			Uncertain significance (Mar 18, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP