3-48296786-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001308426.2(NME6):c.134G>A(p.Arg45Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000564 in 1,613,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001308426.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251230Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135798
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461562Hom.: 0 Cov.: 30 AF XY: 0.0000385 AC XY: 28AN XY: 727104
GnomAD4 genome AF: 0.000158 AC: 24AN: 152076Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74272
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.158G>A (p.R53Q) alteration is located in exon 3 (coding exon 3) of the NME6 gene. This alteration results from a G to A substitution at nucleotide position 158, causing the arginine (R) at amino acid position 53 to be replaced by a glutamine (Q). 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