ENST00000488816.1:n.166-5881A>G

Variant names:

Variant summary

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

The NM_001009608.3(SLX4IP):c.239-2738G>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 N/A ( N/A hom., cov: )

Exomes 𝑓: N/A ( N/A hom. )

Consequence

SLX4IP
NM_001009608.3 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

No conservation score assigned

Variant links:

Genes affected

SLX4IP (HGNC:16225): (SLX4 interacting protein)

SLX4IP links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLX4IP	NM_001009608.3 link	c.239-2738G>.		intron_variant	Intron 4 of 7	ENST00000334534.10	NP_001009608.1	Q5VYV7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLX4IP	ENST00000334534.10 link	c.239-2738G>.		intron_variant	Intron 4 of 7	1	NM_001009608.3	ENSP00000335557.5		Q5VYV7

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing