rs4640436
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000705222.1(LINC01819):n.773-2014C>T 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 0.359 in 152,062 control chromosomes in the GnomAD database, including 9,906 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
ENST00000705222.1 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 |
---|---|---|---|---|---|---|---|---|---|
LINC01819 | ENST00000705222.1 | n.773-2014C>T | intron_variant, non_coding_transcript_variant | ||||||
LINC01819 | ENST00000705221.1 | n.456-2014C>T | intron_variant, non_coding_transcript_variant | ||||||
LINC01819 | ENST00000705223.1 | n.258+1213C>T | intron_variant, non_coding_transcript_variant | ||||||
LINC01819 | ENST00000705224.1 | n.596-2014C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.359 AC: 54549AN: 151944Hom.: 9902 Cov.: 32
GnomAD4 genome ? AF: 0.359 AC: 54571AN: 152062Hom.: 9906 Cov.: 32 AF XY: 0.356 AC XY: 26483AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at