2-181386910-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_130784.1(LINC01934):n.591-11469T>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 0.000118 in 152,002 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_130784.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC01934 | NR_130784.1 | n.591-11469T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01934 | ENST00000435411.6 | n.591-11469T>C | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC01934 | ENST00000659181.1 | n.515-11469T>C | intron_variant, non_coding_transcript_variant | ||||||
LINC01934 | ENST00000669843.1 | n.685-11469T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152002Hom.: 0 Cov.: 32
GnomAD4 genome AF: 0.000118 AC: 18AN: 152002Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74230
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at