rs1736656
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Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The ENST00000422742.2(KIF4CP):n.418-81C>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. 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 0.82 ( 26161 hom., 26471 hem., cov: 22)
Exomes 𝑓: 0.86 ( 76950 hom. 85623 hem. )
Failed GnomAD Quality Control
Consequence
KIF4CP
ENST00000422742.2 intron, non_coding_transcript
ENST00000422742.2 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.43
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF4CP | ENST00000422742.2 | n.418-81C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.820 AC: 89829AN: 109602Hom.: 26162 Cov.: 22 AF XY: 0.830 AC XY: 26427AN XY: 31844
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GnomAD4 exome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.861 AC: 263743AN: 306364Hom.: 76950 Cov.: 3 AF XY: 0.862 AC XY: 85623AN XY: 99292
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Data not reliable, filtered out with message: InbreedingCoeff
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GnomAD4 genome ? Data not reliable, filtered out with message: InbreedingCoeff AF: 0.820 AC: 89870AN: 109658Hom.: 26161 Cov.: 22 AF XY: 0.830 AC XY: 26471AN XY: 31910
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Data not reliable, filtered out with message: InbreedingCoeff
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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