rs2023414
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007067367.1(LOC101060187):n.2403G>A 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 0.209 in 152,220 control chromosomes in the GnomAD database, including 3,835 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 0.21 ( 3832 hom., cov: 33)
Exomes 𝑓: 0.26 ( 3 hom. )
Consequence
LOC101060187
XR_007067367.1 non_coding_transcript_exon
XR_007067367.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.05
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=-0.92).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.253 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC101060187 | XR_007067367.1 | n.2403G>A | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000617163.1 | n.1050-51C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000651161.1 | n.2218G>A | non_coding_transcript_exon_variant | 4/4 |
Frequencies
GnomAD3 genomes ? AF: 0.209 AC: 31820AN: 151990Hom.: 3832 Cov.: 33
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GnomAD4 exome AF: 0.259 AC: 29AN: 112Hom.: 3 AF XY: 0.231 AC XY: 18AN XY: 78
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GnomAD4 genome ? AF: 0.209 AC: 31823AN: 152108Hom.: 3832 Cov.: 33 AF XY: 0.211 AC XY: 15717AN XY: 74348
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at