rs17371334
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_046871.1(LINC00333):n.139-104172T>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 0.303 in 152,046 control chromosomes in the GnomAD database, including 7,329 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_046871.1 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 |
---|---|---|---|---|---|---|---|
LINC00333 | NR_046871.1 | n.139-104172T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105370289 | XR_942134.1 | n.366-46273A>C | intron_variant, non_coding_transcript_variant | ||||
LOC105370289 | XR_942133.1 | n.369-46273A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.303 AC: 45997AN: 151926Hom.: 7323 Cov.: 33
GnomAD4 genome ? AF: 0.303 AC: 46004AN: 152046Hom.: 7329 Cov.: 33 AF XY: 0.294 AC XY: 21843AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at