22-37013844-C-CTGTTTTGTTT

Variant names:

• chr22-37013844-C-CTGTTTTGTTT
• rs16363
• NM_003312.6:c.596-2520_596-2519insAAACAAAACA

Variant summary

Our verdict is Uncertain significance. The variant received 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
• Publications: 5 publications found

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

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TST	NM_003312.6	c.596-2520_596-2519insAAACAAAACA		intron_variant	Intron 2 of 2	ENST00000249042.8	NP_003303.2
TST	NM_001270483.1	c.596-2520_596-2519insAAACAAAACA		intron_variant	Intron 2 of 2		NP_001257412.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TST	ENST00000249042.8	c.596-2520_596-2519insAAACAAAACA		intron_variant	Intron 2 of 2	1	NM_003312.6	ENSP00000249042.3
TST	ENST00000403892.7	c.596-2520_596-2519insAAACAAAACA		intron_variant	Intron 1 of 1	1		ENSP00000385828.3
TST	ENST00000622841.1	c.596-2520_596-2519insAAACAAAACA		intron_variant	Intron 2 of 2	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

Alfa AF: 0.00 Hom.: 396

Bravo AF: 0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs16363; hg19: chr22-37409885;