13-63204644-AACTT-AACTTACTT

Variant names:

• chr13-63204644-A-AACTT
• rs34122827
• ENST00000439454.3:n.459-10114_459-10113insAAGT

Variant summary

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

The NR_126409.1(LINC00376):​n.424-10117_424-10114dupAAGT 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: LINC00376 NR_126409.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.531
• Publications: 0 publications found

Genes affected

LINC00376 (HGNC:42701): (long intergenic non-protein coding RNA 376)

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NR_126409.1. 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
	LINC00376	NR_126409.1		n.424-10117_424-10114dupAAGT		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LINC00376	ENST00000439454.3	TSL:5	n.459-10114_459-10113insAAGT		intron	N/A
	LINC00376	ENST00000836363.1		n.340-10114_340-10113insAAGT		intron	N/A
	LINC00376	ENST00000836364.1		n.350-10114_350-10113insAAGT		intron	N/A

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 v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.53

Splicing

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

Other links and lift over

dbSNP: rs34122827; hg19: chr13-63778777;