rs1727227557
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_007083.5(NUDT6):c.859G>T(p.Glu287*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,836 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_007083.5 stop_gained
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 |
---|---|---|---|---|---|---|---|---|
NUDT6 | NM_007083.5 | c.859G>T | p.Glu287* | stop_gained | Exon 5 of 5 | ENST00000304430.10 | NP_009014.2 | |
FGF2 | NM_001361665.2 | c.*524C>A | 3_prime_UTR_variant | Exon 3 of 3 | ENST00000644866.2 | NP_001348594.1 | ||
NUDT6 | NM_198041.3 | c.352G>T | p.Glu118* | stop_gained | Exon 5 of 5 | NP_932158.1 | ||
FGF2 | NM_002006.6 | c.*524C>A | 3_prime_UTR_variant | Exon 3 of 3 | NP_001997.5 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461836Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727210
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.