rs17275322
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NR_027112.2(LINC02112):n.520-460T>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 0.0301 in 152,356 control chromosomes in the GnomAD database, including 71 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
Genomes: 𝑓 0.030 ( 71 hom., cov: 33)
Consequence
LINC02112
NR_027112.2 intron, non_coding_transcript
NR_027112.2 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.364
Genes affected
LINC02112 (HGNC:27756): (long intergenic non-protein coding RNA 2112)
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.65).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0301 (4580/152356) while in subpopulation AFR AF= 0.0334 (1389/41590). AF 95% confidence interval is 0.0321. There are 71 homozygotes in gnomad4. There are 2154 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 71 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC02112 | NR_027112.2 | n.520-460T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105374649 | XR_925776.2 | n.104-9345A>C | intron_variant, non_coding_transcript_variant | ||||
TAS2R1 | NM_001386348.1 | c.-841-51914T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02112 | ENST00000511616.5 | n.522-460T>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0300 AC: 4571AN: 152238Hom.: 71 Cov.: 33
GnomAD3 genomes
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33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0301 AC: 4580AN: 152356Hom.: 71 Cov.: 33 AF XY: 0.0289 AC XY: 2154AN XY: 74494
GnomAD4 genome
?
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at