ENST00000412306.1:c.223-99405A>G

Variant names:

• chr6-81850995-C-.
• ENST00000418567.2:n.196-5086G>.

Variant summary

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

The NR_149134.1(LINC02542):​n.147-5086G>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: LINC02542 NR_149134.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned

Genes affected

LINC02542 (HGNC:53576): (long intergenic non-protein coding RNA 2542)

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LINC02542	NR_149134.1	n.147-5086G>.		intron_variant	Intron 2 of 2
LINC02542	NR_149135.1	n.343-5086G>.		intron_variant	Intron 3 of 3
LINC02542	NR_149136.1	n.98-5086G>.		intron_variant	Intron 2 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
LINC02542	ENST00000418567.2	n.196-5086G>.		intron_variant	Intron 2 of 2	5
LINC02542	ENST00000658218.1	n.205-5086G>.		intron_variant	Intron 1 of 1
LINC02542	ENST00000660534.2	n.118-5086G>.		intron_variant	Intron 1 of 1

Frequencies

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

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

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

No publications associated with this variant yet.

Other links and lift over

hg19: chr6-82560712;