2-151270705-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004688.3(NMI):c.912C>A(p.Tyr304*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000451 in 1,612,662 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Consequence
NM_004688.3 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 |
---|---|---|---|---|---|---|---|---|
NMI | NM_004688.3 | c.912C>A | p.Tyr304* | stop_gained | Exon 8 of 8 | ENST00000243346.10 | NP_004679.2 | |
NMI | XM_047446270.1 | c.1185C>A | p.Tyr395* | stop_gained | Exon 8 of 8 | XP_047302226.1 | ||
NMI | XM_005246941.3 | c.912C>A | p.Tyr304* | stop_gained | Exon 8 of 8 | XP_005246998.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000296 AC: 45AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000399 AC: 100AN: 250750Hom.: 0 AF XY: 0.000332 AC XY: 45AN XY: 135500
GnomAD4 exome AF: 0.000468 AC: 683AN: 1460364Hom.: 1 Cov.: 30 AF XY: 0.000431 AC XY: 313AN XY: 726486
GnomAD4 genome AF: 0.000295 AC: 45AN: 152298Hom.: 0 Cov.: 33 AF XY: 0.000255 AC XY: 19AN XY: 74478
ClinVar
Submissions by phenotype
not provided Other:1
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at