rs150664393
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004688.3(NMI):c.912C>T(p.Tyr304Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,460,368 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004688.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NMI | NM_004688.3 | c.912C>T | p.Tyr304Tyr | synonymous_variant | Exon 8 of 8 | ENST00000243346.10 | NP_004679.2 | |
NMI | XM_047446270.1 | c.1185C>T | p.Tyr395Tyr | synonymous_variant | Exon 8 of 8 | XP_047302226.1 | ||
NMI | XM_005246941.3 | c.912C>T | p.Tyr304Tyr | synonymous_variant | Exon 8 of 8 | XP_005246998.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1460368Hom.: 0 Cov.: 30 AF XY: 0.00000551 AC XY: 4AN XY: 726488
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at