ENST00000561562.5:c.301-16572C>G

Variant names:

Variant summary

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

The ENST00000689373.1(ENSG00000288849):n.1202-11192G>. 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

ENSG00000288849
ENST00000689373.1 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

No conservation score assigned

Variant links:

Genes affected

ENSG00000288849 (HGNC:):

ENSG00000288849 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

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000288849	ENST00000689373.1 link	n.1202-11192G>.		intron_variant	Intron 5 of 8
ENSG00000288849	ENST00000692462.1 link	n.1170-11192G>.		intron_variant	Intron 5 of 8

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