22-37013844-C-CTGTTTTGTTT

Position:

• chr22-37013844-C-CTGTTTTGTTT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_003312.6(TST):​c.596-2520_596-2519insAAACAAAACA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: TST NM_003312.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.207

Genes affected

TST (HGNC:12388): (thiosulfate sulfurtransferase) This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TST	NM_003312.6	c.596-2520_596-2519insAAACAAAACA		intron_variant		ENST00000249042.8	NP_003303.2
TST	NM_001270483.1	c.596-2520_596-2519insAAACAAAACA		intron_variant			NP_001257412.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TST	ENST00000249042.8	c.596-2520_596-2519insAAACAAAACA		intron_variant		1	NM_003312.6	ENSP00000249042.3
TST	ENST00000403892.7	c.596-2520_596-2519insAAACAAAACA		intron_variant		1		ENSP00000385828.3
TST	ENST00000622841.1	c.596-2520_596-2519insAAACAAAACA		intron_variant		5		ENSP00000478739.1

Frequencies

GnomAD3 genomes Cov.: 0

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 0

Bravo AF: 0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs16363; hg19: chr22-37409885;