rs10059317
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000503106.5(LINC02997):n.520+33516G>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 0.176 in 151,984 control chromosomes in the GnomAD database, including 4,252 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
ENST00000503106.5 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 |
---|---|---|---|---|---|---|---|---|---|
LINC02997 | ENST00000503106.5 | n.520+33516G>A | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC02997 | ENST00000514368.1 | n.125+33890G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC02997 | ENST00000668508.1 | n.248+33890G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.176 AC: 26746AN: 151864Hom.: 4243 Cov.: 32
GnomAD4 genome ? AF: 0.176 AC: 26789AN: 151984Hom.: 4252 Cov.: 32 AF XY: 0.175 AC XY: 12974AN XY: 74310
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at