1-204140113-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018208.4(ETNK2):c.790G>A(p.Val264Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,613,520 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018208.4 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 |
---|---|---|---|---|---|---|---|---|
ETNK2 | NM_018208.4 | c.790G>A | p.Val264Met | missense_variant | Exon 5 of 8 | ENST00000367202.9 | NP_060678.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251066Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135692
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461248Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 726962
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152272Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74430
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.790G>A (p.V264M) alteration is located in exon 5 (coding exon 5) of the ETNK2 gene. This alteration results from a G to A substitution at nucleotide position 790, causing the valine (V) at amino acid position 264 to be replaced by a methionine (M). 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