rs16953477
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001114118.3(NCBP3):c.*10827G>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0224 in 152,084 control chromosomes in the GnomAD database, including 52 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 0.022 ( 52 hom., cov: 33)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
NCBP3
NM_001114118.3 3_prime_UTR
NM_001114118.3 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.351
Genes affected
NCBP3 (HGNC:24612): (nuclear cap binding subunit 3) Enables RNA 7-methylguanosine cap binding activity and mRNA binding activity. Involved in defense response to virus. Located in cytoplasm and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
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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=-0.82).
BS1
?
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.0224 (3414/152084) while in subpopulation SAS AF= 0.0258 (124/4804). AF 95% confidence interval is 0.0226. There are 52 homozygotes in gnomad4. There are 1760 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 52 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NCBP3 | NM_001114118.3 | c.*10827G>C | 3_prime_UTR_variant | 13/13 | ENST00000389005.6 | ||
NCBP3 | NM_001398494.1 | c.*10329G>C | 3_prime_UTR_variant | 14/14 | |||
NCBP3 | XR_007065313.1 | n.2239G>C | non_coding_transcript_exon_variant | 15/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NCBP3 | ENST00000389005.6 | c.*10827G>C | 3_prime_UTR_variant | 13/13 | 5 | NM_001114118.3 | P1 | ||
NCBP3 | ENST00000572988.1 | n.466G>C | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0225 AC: 3413AN: 151966Hom.: 52 Cov.: 33
GnomAD3 genomes
?
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33
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 2Hom.: 0 Cov.: 0AC XY: 0AN XY: 0
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Data not reliable, filtered out with message: AC0
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GnomAD4 genome ? AF: 0.0224 AC: 3414AN: 152084Hom.: 52 Cov.: 33 AF XY: 0.0237 AC XY: 1760AN XY: 74338
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74338
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32
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at