chr15-90966504-A-G
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003981.4(PRC1):c.*627T>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 0.0834 in 451,644 control chromosomes in the GnomAD database, including 1,805 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Genomes: 𝑓 0.080 ( 539 hom., cov: 32)
Exomes 𝑓: 0.085 ( 1266 hom. )
Consequence
PRC1
NM_003981.4 3_prime_UTR
NM_003981.4 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.355
Genes affected
PRC1 (HGNC:9341): (protein regulator of cytokinesis 1) This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
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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=-0.77).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0929 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRC1 | NM_003981.4 | c.*627T>C | 3_prime_UTR_variant | 15/15 | ENST00000394249.8 | ||
PRC1-AS1 | NR_051984.1 | n.136A>G | non_coding_transcript_exon_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRC1 | ENST00000394249.8 | c.*627T>C | 3_prime_UTR_variant | 15/15 | 1 | NM_003981.4 | |||
PRC1-AS1 | ENST00000554388.2 | n.165A>G | non_coding_transcript_exon_variant | 1/4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0803 AC: 12219AN: 152154Hom.: 541 Cov.: 32
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GnomAD4 exome AF: 0.0849 AC: 25414AN: 299372Hom.: 1266 Cov.: 0 AF XY: 0.0873 AC XY: 14868AN XY: 170352
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GnomAD4 genome AF: 0.0803 AC: 12231AN: 152272Hom.: 539 Cov.: 32 AF XY: 0.0800 AC XY: 5956AN XY: 74468
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Familial cancer of breast Uncertain:1
Uncertain significance, no assertion criteria provided | research | Research Lab, National Institute of Public Health | Feb 01, 2014 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at