rs12623542
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_110220.1(LINC01237):n.313+12581T>G 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 0.459 in 151,128 control chromosomes in the GnomAD database, including 17,509 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
NR_110220.1 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 |
---|---|---|---|---|---|---|---|
LINC01237 | NR_110220.1 | n.313+12581T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01237 | ENST00000415434.5 | n.310+12581T>G | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC01237 | ENST00000685688.1 | n.306-9070T>G | intron_variant, non_coding_transcript_variant | ||||||
LINC01237 | ENST00000701629.1 | n.310-9070T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.459 AC: 69377AN: 151010Hom.: 17505 Cov.: 32
GnomAD4 genome ? AF: 0.459 AC: 69405AN: 151128Hom.: 17509 Cov.: 32 AF XY: 0.464 AC XY: 34235AN XY: 73846
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at