chr2-66058737-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000606978.5(LINC02934):n.1000-13767T>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 0.511 in 152,042 control chromosomes in the GnomAD database, including 19,990 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
ENST00000606978.5 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC02934 | XR_007086567.1 | n.201-13767T>C | intron_variant, non_coding_transcript_variant | ||||
LINC02934 | XR_007086560.1 | n.311-13767T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02934 | ENST00000606978.5 | n.1000-13767T>C | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC02934 | ENST00000606556.1 | n.142-13767T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.511 AC: 77653AN: 151924Hom.: 19966 Cov.: 32
GnomAD4 genome AF: 0.511 AC: 77728AN: 152042Hom.: 19990 Cov.: 32 AF XY: 0.514 AC XY: 38208AN XY: 74316
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at