rs1799983
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PM2_SupportingBP4_Strong
The NM_000603.5(NOS3):c.894T>A(p.Asp298Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151882 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Benignin ClinVar.
Frequency
Consequence
NM_000603.5 missense
Scores
Clinical Significance
Conservation
Links
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOS3 | NM_000603.5 | c.894T>A | p.Asp298Glu | missense_variant | 8/27 | ENST00000297494.8 | |
NOS3 | NM_001160111.1 | c.894T>A | p.Asp298Glu | missense_variant | 7/14 | ||
NOS3 | NM_001160110.1 | c.894T>A | p.Asp298Glu | missense_variant | 7/14 | ||
NOS3 | NM_001160109.2 | c.894T>A | p.Asp298Glu | missense_variant | 7/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOS3 | ENST00000297494.8 | c.894T>A | p.Asp298Glu | missense_variant | 8/27 | 1 | NM_000603.5 | P1 | |
NOS3 | ENST00000484524.5 | c.894T>A | p.Asp298Glu | missense_variant | 7/14 | 1 | |||
NOS3 | ENST00000467517.1 | c.894T>A | p.Asp298Glu | missense_variant | 7/14 | 1 | |||
NOS3 | ENST00000461406.5 | c.276T>A | p.Asp92Glu | missense_variant | 5/24 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151882Hom.: 0 Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at