ENST00000419225.1:n.110+2080_110+2081insGATGCGGGG

Variant names:

• chr7-155454909-G-GCCCCGCATC
• rs6150410
• ENST00000419225.1:n.110+2080_110+2081insGATGCGGGG

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The ENST00000419225.1(EN2-DT):​n.110+2080_110+2081insGATGCGGGG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 22)
• Consequence: EN2-DT ENST00000419225.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00400
• Publications: 1 publications found

Genes affected

EN2-DT (HGNC:55659): (EN2 divergent transcript)

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000419225.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	EN2-DT	NR_186580.1		n.129+2072_129+2080dupGATGCGGGG		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	EN2-DT	ENST00000419225.1	TSL:4	n.110+2080_110+2081insGATGCGGGG		intron	N/A
	EN2-DT	ENST00000781270.1		n.107+2080_107+2081insGATGCGGGG		intron	N/A
	EN2-DT	ENST00000781271.1		n.86+2080_86+2081insGATGCGGGG		intron	N/A

Frequencies

GnomAD3 genomes Cov.: 22

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

GnomAD4 genome Cov.: 22

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.0040

Splicing

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

Other links and lift over

dbSNP: rs6150410; hg19: chr7-155247604;