chr7-91118056-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001287135.2(CDK14):c.1295-9T>C variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0649 in 1,490,382 control chromosomes in the GnomAD database, including 5,794 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
Consequence
NM_001287135.2 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDK14 | NM_001287135.2 | c.1295-9T>C | splice_polypyrimidine_tract_variant, intron_variant | ENST00000380050.8 | |||
CDK14 | NM_001287136.1 | c.1157-9T>C | splice_polypyrimidine_tract_variant, intron_variant | ||||
CDK14 | NM_001287137.1 | c.908-9T>C | splice_polypyrimidine_tract_variant, intron_variant | ||||
CDK14 | NM_012395.3 | c.1241-9T>C | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDK14 | ENST00000380050.8 | c.1295-9T>C | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001287135.2 | P4 | |||
CDK14 | ENST00000265741.7 | c.1241-9T>C | splice_polypyrimidine_tract_variant, intron_variant | 1 | |||||
CDK14 | ENST00000406263.5 | c.1157-9T>C | splice_polypyrimidine_tract_variant, intron_variant | 1 | A1 | ||||
CDK14 | ENST00000436577.3 | c.908-9T>C | splice_polypyrimidine_tract_variant, intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0773 AC: 11754AN: 152066Hom.: 780 Cov.: 32
GnomAD3 exomes AF: 0.0865 AC: 21064AN: 243436Hom.: 1823 AF XY: 0.0884 AC XY: 11630AN XY: 131512
GnomAD4 exome AF: 0.0635 AC: 85027AN: 1338198Hom.: 5014 Cov.: 19 AF XY: 0.0660 AC XY: 44399AN XY: 672326
GnomAD4 genome AF: 0.0773 AC: 11766AN: 152184Hom.: 780 Cov.: 32 AF XY: 0.0818 AC XY: 6089AN XY: 74394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at