chr1-207253220-A-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000634239.1(LINC02942):n.176+8684A>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 0.653 in 151,990 control chromosomes in the GnomAD database, including 32,886 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
ENST00000634239.1 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 |
---|---|---|---|---|---|---|---|
LOC107985251 | XR_007066838.1 | n.444+68466T>A | intron_variant, non_coding_transcript_variant | ||||
LOC107985251 | XR_007066837.1 | n.444+68466T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02942 | ENST00000634239.1 | n.176+8684A>T | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC02942 | ENST00000417084.1 | n.84+4070A>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.653 AC: 99124AN: 151872Hom.: 32860 Cov.: 32
GnomAD4 genome AF: 0.653 AC: 99204AN: 151990Hom.: 32886 Cov.: 32 AF XY: 0.651 AC XY: 48334AN XY: 74290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at