rs2075417
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007067222.1(LINC01837):n.254+19986C>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 0.388 in 152,128 control chromosomes in the GnomAD database, including 12,276 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
XR_007067222.1 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 |
---|---|---|---|---|---|---|---|
LINC01837 | XR_007067222.1 | n.254+19986C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01837 | ENST00000590021.2 | n.105-22805C>T | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC01837 | ENST00000590053.1 | n.112+20084C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC01837 | ENST00000593082.3 | n.556+10159C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.388 AC: 58952AN: 152010Hom.: 12258 Cov.: 33
GnomAD4 genome ? AF: 0.388 AC: 59026AN: 152128Hom.: 12276 Cov.: 33 AF XY: 0.385 AC XY: 28634AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at