rs57098334

Variant names:

• chr17-30221568-A-ACAGCCCACCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC
• rs57098334
• NM_001045.6:c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG

Your query was ambiguous. Multiple possible variants found:

• chr17-30221568-A-ACAGCCCACCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC
• chr17-30221568-A-ACAGCCCACCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC
• chr17-30221568-A-ACAGCCCACCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACCCAGCCCACC

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_001045.6(SLC6A4):​c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 31)
• Consequence: SLC6A4 NM_001045.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.523
• Publications: 10 publications found

Genes affected

SLC6A4 (HGNC:11050): (solute carrier family 6 member 4) This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake. There have been conflicting results in the literature about the possible effect, if any, that this polymorphism may play in behavior and depression. [provided by RefSeq, May 2019]

SLC6A4 Gene-Disease associations (from GenCC):

• autism spectrum disorder

  Inheritance: AD Classification: NO_KNOWN Submitted by: ClinGen

ACMG classification

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC6A4	NM_001045.6	c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG		intron_variant	Intron 3 of 14	ENST00000650711.1	NP_001036.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC6A4	ENST00000650711.1	c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG		intron_variant	Intron 3 of 14		NM_001045.6	ENSP00000498537.1
SLC6A4	ENST00000261707.7	c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG		intron_variant	Intron 3 of 14	1		ENSP00000261707.3
SLC6A4	ENST00000394821.2	c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG		intron_variant	Intron 3 of 14	1		ENSP00000378298.2
SLC6A4	ENST00000401766.6	c.343+47_343+48insGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGGTGGGCTGGTGGGCTG		intron_variant	Intron 2 of 13	5		ENSP00000385822.2

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 27

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.52

Splicing

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

Other links and lift over

dbSNP: rs57098334; hg19: chr17-28548586;