rs7015122
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000502901.6(LINC02055):n.186-31806A>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 0.213 in 152,138 control chromosomes in the GnomAD database, including 4,085 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
ENST00000502901.6 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 |
---|---|---|---|---|---|---|---|---|---|
LINC02055 | ENST00000502901.6 | n.186-31806A>G | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC02055 | ENST00000523150.1 | n.331-31806A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC02055 | ENST00000648077.2 | n.283+41463A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.214 AC: 32467AN: 152020Hom.: 4085 Cov.: 33
GnomAD4 genome AF: 0.213 AC: 32476AN: 152138Hom.: 4085 Cov.: 33 AF XY: 0.221 AC XY: 16462AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at