7-91079434-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001287135.2(CDK14):c.1108C>T(p.Arg370Cys) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000014 in 1,428,348 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R370S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001287135.2 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDK14 | NM_001287135.2 | c.1108C>T | p.Arg370Cys | missense_variant, splice_region_variant | 12/15 | ENST00000380050.8 | |
CDK14 | NM_012395.3 | c.1054C>T | p.Arg352Cys | missense_variant, splice_region_variant | 11/14 | ||
CDK14 | NM_001287136.1 | c.970C>T | p.Arg324Cys | missense_variant, splice_region_variant | 11/14 | ||
CDK14 | NM_001287137.1 | c.721C>T | p.Arg241Cys | missense_variant, splice_region_variant | 10/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDK14 | ENST00000380050.8 | c.1108C>T | p.Arg370Cys | missense_variant, splice_region_variant | 12/15 | 1 | NM_001287135.2 | P4 | |
CDK14 | ENST00000265741.7 | c.1054C>T | p.Arg352Cys | missense_variant, splice_region_variant | 11/14 | 1 | |||
CDK14 | ENST00000406263.5 | c.970C>T | p.Arg324Cys | missense_variant, splice_region_variant | 11/14 | 1 | A1 | ||
CDK14 | ENST00000436577.3 | c.721C>T | p.Arg241Cys | missense_variant, splice_region_variant | 10/13 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000250 AC: 6AN: 239908Hom.: 0 AF XY: 0.0000154 AC XY: 2AN XY: 129620
GnomAD4 exome AF: 0.0000140 AC: 20AN: 1428348Hom.: 0 Cov.: 26 AF XY: 0.0000126 AC XY: 9AN XY: 711488
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.1054C>T (p.R352C) alteration is located in exon 11 (coding exon 11) of the CDK14 gene. This alteration results from a C to T substitution at nucleotide position 1054, causing the arginine (R) at amino acid position 352 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at