13-52087453-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001365552.1(NEK5):c.1277G>T(p.Gly426Val) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000146 in 1,366,580 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001365552.1 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NEK5 | NM_001365552.1 | c.1277G>T | p.Gly426Val | missense_variant, splice_region_variant | Exon 15 of 24 | ENST00000684899.1 | NP_001352481.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NEK5 | ENST00000684899.1 | c.1277G>T | p.Gly426Val | missense_variant, splice_region_variant | Exon 15 of 24 | NM_001365552.1 | ENSP00000509632.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1366580Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 684070
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1277G>T (p.G426V) alteration is located in exon 15 (coding exon 13) of the NEK5 gene. This alteration results from a G to T substitution at nucleotide position 1277, causing the glycine (G) at amino acid position 426 to be replaced by a valine (V). 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