rs11752942
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_038887.1(LINC00951):n.1988T>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.463 in 152,148 control chromosomes in the GnomAD database, including 18,038 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 0.46 ( 18038 hom., cov: 32)
Consequence
LINC00951
NR_038887.1 non_coding_transcript_exon
NR_038887.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.87
Genes affected
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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=-0.93).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.633 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINC00951 | NR_038887.1 | n.1988T>C | non_coding_transcript_exon_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC00951 | ENST00000700329.1 | n.2534T>C | non_coding_transcript_exon_variant | 1/3 | ||||||
LINC00951 | ENST00000373171.3 | n.8691-490T>C | intron_variant | 2 | ||||||
TDRG1 | ENST00000448559.5 | n.137+13418A>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.464 AC: 70470AN: 152030Hom.: 18032 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.463 AC: 70509AN: 152148Hom.: 18038 Cov.: 32 AF XY: 0.466 AC XY: 34689AN XY: 74378
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ClinVar
Not reported inComputational scores
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Name
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at