rs992193
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000666257.1(LINC00710):n.1673-1698G>A 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 0.632 in 151,832 control chromosomes in the GnomAD database, including 30,740 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
ENST00000666257.1 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 |
---|---|---|---|---|---|---|---|
CELF2 | NM_001326317.2 | c.-20+11354C>T | intron_variant | ||||
CELF2 | NM_001326318.2 | c.-20+11354C>T | intron_variant | ||||
CELF2 | NM_001326319.2 | c.-57-9064C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC00710 | ENST00000666257.1 | n.1673-1698G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.632 AC: 95878AN: 151714Hom.: 30740 Cov.: 30
GnomAD4 genome ? AF: 0.632 AC: 95900AN: 151832Hom.: 30740 Cov.: 30 AF XY: 0.632 AC XY: 46904AN XY: 74172
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at