rs12465811
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000422558.1(LINC01320):n.475+14160T>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 0.643 in 151,748 control chromosomes in the GnomAD database, including 31,365 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
ENST00000422558.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01320 | ENST00000422558.1 | n.475+14160T>G | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC01320 | ENST00000650021.1 | n.219+14160T>G | intron_variant, non_coding_transcript_variant | ||||||
LINC01320 | ENST00000654103.1 | n.384-343T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.643 AC: 97457AN: 151630Hom.: 31338 Cov.: 30
GnomAD4 genome ? AF: 0.643 AC: 97540AN: 151748Hom.: 31365 Cov.: 30 AF XY: 0.645 AC XY: 47775AN XY: 74108
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at