Variant rs132162 details in Genebe, Genetics Data Aggregator

Variant summary

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

The ENST00000423737.5(EPIC1):n.823+277_823+278insTACGAGG 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

EPIC1
ENST00000423737.5 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.194

Variant links:

Genes affected

EPIC1 (HGNC:):

EPIC1 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/exons	MANE	Protein	UniProt
EPIC1	NR_122046.1 linkuse as main transcript	n.823+277_823+278insTACGAGG		intron_variant

Ensembl

Gene	Transcript	HGVSc	Effect	TSL
EPIC1	ENST00000423737.5 linkuse as main transcript	n.823+277_823+278insTACGAGG	intron_variant	2
EPIC1	ENST00000438810.1 linkuse as main transcript	n.399+273_399+274insTACGAGG	intron_variant	3
EPIC1	ENST00000650660.1 linkuse as main transcript	n.819+277_819+278insTACGAGG	intron_variant

Frequencies

GnomAD3 genomes

Cov.:

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

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.