chr9-124326420-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014397.6(NEK6):c.496C>T(p.Arg166Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000255 in 1,608,978 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014397.6 missense
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 |
---|---|---|---|---|---|---|---|---|
NEK6 | NM_014397.6 | c.496C>T | p.Arg166Cys | missense_variant | Exon 6 of 10 | ENST00000320246.10 | NP_055212.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000364 AC: 9AN: 247128Hom.: 0 AF XY: 0.0000597 AC XY: 8AN XY: 133990
GnomAD4 exome AF: 0.0000240 AC: 35AN: 1456854Hom.: 0 Cov.: 31 AF XY: 0.0000317 AC XY: 23AN XY: 724940
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.598C>T (p.R200C) alteration is located in exon 7 (coding exon 6) of the NEK6 gene. This alteration results from a C to T substitution at nucleotide position 598, causing the arginine (R) at amino acid position 200 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