rs784395
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000589440.1(LINC03092):n.405+30694G>C 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 0.61 in 151,848 control chromosomes in the GnomAD database, including 28,653 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
ENST00000589440.1 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC03092 | ENST00000589440.1 | n.405+30694G>C | intron_variant, non_coding_transcript_variant | 2 | |||||
LINC01416 | ENST00000654280.1 | n.1513-25709C>G | intron_variant, non_coding_transcript_variant | ||||||
LINC01416 | ENST00000655696.1 | n.1304-25709C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.610 AC: 92547AN: 151730Hom.: 28634 Cov.: 31
GnomAD4 genome AF: 0.610 AC: 92608AN: 151848Hom.: 28653 Cov.: 31 AF XY: 0.614 AC XY: 45540AN XY: 74194
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at