rs7612518
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_038840.1(LINC00693):n.323-42130G>A 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 0.448 in 151,948 control chromosomes in the GnomAD database, including 15,402 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_038840.1 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 |
---|---|---|---|---|---|---|---|
LINC00693 | NR_038840.1 | n.323-42130G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBMS3 | ENST00000636680.2 | c.213+138132G>A | intron_variant | 5 | |||||
RBMS3 | ENST00000432518.6 | n.810-42130G>A | intron_variant, non_coding_transcript_variant | 5 | |||||
RBMS3 | ENST00000443912.5 | n.87-21381G>A | intron_variant, non_coding_transcript_variant | 4 | |||||
RBMS3 | ENST00000445077.1 | n.70-42481G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.448 AC: 68077AN: 151828Hom.: 15395 Cov.: 31
GnomAD4 genome ? AF: 0.448 AC: 68114AN: 151948Hom.: 15402 Cov.: 31 AF XY: 0.446 AC XY: 33159AN XY: 74266
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at