rs12121865
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NM_005427.4(TP73):c.186+7416G>A variant causes a intron change. The variant allele was found at a frequency of 0.0586 in 1,256,496 control chromosomes in the GnomAD database, including 2,437 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 0.040 ( 161 hom., cov: 33)
Exomes 𝑓: 0.061 ( 2276 hom. )
Consequence
TP73
NM_005427.4 intron
NM_005427.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 7.07
Genes affected
TP73 (HGNC:12003): (tumor protein p73) This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.41).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0607 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TP73 | NM_005427.4 | c.186+7416G>A | intron_variant | ENST00000378295.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TP73 | ENST00000378295.9 | c.186+7416G>A | intron_variant | 1 | NM_005427.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0398 AC: 6055AN: 152228Hom.: 161 Cov.: 33
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GnomAD4 exome AF: 0.0612 AC: 67560AN: 1104150Hom.: 2276 AF XY: 0.0602 AC XY: 31752AN XY: 527706
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GnomAD4 genome ? AF: 0.0397 AC: 6055AN: 152346Hom.: 161 Cov.: 33 AF XY: 0.0382 AC XY: 2847AN XY: 74490
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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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