15-38695896-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000644461.1(LINC02694):n.96+67741G>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 0.255 in 152,064 control chromosomes in the GnomAD database, including 5,242 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.96+67741G>T | intron_variant, non_coding_transcript_variant | ||||||
LINC02694 | ENST00000646232.1 | n.163+6582G>T | intron_variant, non_coding_transcript_variant | ||||||
LINC02694 | ENST00000647456.1 | n.572+6582G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.255 AC: 38783AN: 151946Hom.: 5242 Cov.: 33
GnomAD4 genome AF: 0.255 AC: 38805AN: 152064Hom.: 5242 Cov.: 33 AF XY: 0.253 AC XY: 18802AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at