rs2624265
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000644461.1(LINC02694):n.158+33389T>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 0.282 in 152,140 control chromosomes in the GnomAD database, including 7,338 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
ENST00000644461.1 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 |
---|---|---|---|---|---|---|---|---|---|
LINC02694 | ENST00000644461.1 | n.158+33389T>C | intron_variant, non_coding_transcript_variant | ||||||
LINC02694 | ENST00000646232.1 | n.225+33389T>C | intron_variant, non_coding_transcript_variant | ||||||
LINC02694 | ENST00000647456.1 | n.658+123127T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.282 AC: 42932AN: 152022Hom.: 7339 Cov.: 33
GnomAD4 genome ? AF: 0.282 AC: 42934AN: 152140Hom.: 7338 Cov.: 33 AF XY: 0.283 AC XY: 21049AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at