chr13-63204644-A-AACTT

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 ENST00000439454.3(LINC00376):​n.459-10114_459-10113insAAGT 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 ENST00000439454.3 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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LINC00376	NR_126409.1	n.424-10117_424-10114dupAAGT		intron_variant	Intron 5 of 6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
LINC00376	ENST00000439454.3	n.459-10114_459-10113insAAGT		intron_variant	Intron 5 of 6	5
LINC00376	ENST00000836363.1	n.340-10114_340-10113insAAGT		intron_variant	Intron 4 of 5
LINC00376	ENST00000836364.1	n.350-10114_350-10113insAAGT		intron_variant	Intron 4 of 5

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

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;