chr12-68378458-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000693550.2(LINC02384):n.307-44794A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.9 in 152,238 control chromosomes in the GnomAD database, including 61,800 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000693550.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02384 | ENST00000693550.2 | n.307-44794A>G | intron_variant, non_coding_transcript_variant | ||||||
LINC02384 | ENST00000539404.1 | n.68+25275A>G | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC02384 | ENST00000546086.1 | n.154-44794A>G | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC02384 | ENST00000686524.2 | n.390-44794A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.900 AC: 136940AN: 152120Hom.: 61744 Cov.: 32
GnomAD4 genome AF: 0.900 AC: 137057AN: 152238Hom.: 61800 Cov.: 32 AF XY: 0.903 AC XY: 67248AN XY: 74436
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at