rs132162

Variant names:

• chr22-47687480-A-AAGGTACG
• rs132162
• ENST00000423737.5:n.823+274_823+275insAGGTACG

Your query was ambiguous. Multiple possible variants found:

• chr22-47687480-A-AAGGTACG
• chr22-47687480-A-AAGGTCC
• chr22-47687480-A-AAGGTCCG
• chr22-47687480-A-AAGGTCTG

Variant summary

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

The ENST00000423737.5(EPIC1):​n.823+274_823+275insAGGTACG 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
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.194

Genes affected

EPIC1 (HGNC:27672): (epigenetically induced MYC interacting lncRNA 1)

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
EPIC1	NR_122046.1	n.823+277_823+278insTACGAGG		intron_variant	Intron 6 of 8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
EPIC1	ENST00000423737.5	n.823+274_823+275insAGGTACG		intron_variant	Intron 6 of 8	2
EPIC1	ENST00000438810.1	n.399+270_399+271insAGGTACG		intron_variant	Intron 4 of 4	3
EPIC1	ENST00000650660.1	n.819+274_819+275insAGGTACG		intron_variant	Intron 6 of 6

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs132162; hg19: chr22-48083229;