rs2566514
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBP7
The NM_000603.5(NOS3):c.1998C>A(p.Ala666=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,613,528 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. Synonymous variant affecting the same amino acid position (i.e. A666A) has been classified as Benign.
Frequency
Consequence
NM_000603.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOS3 | NM_000603.5 | c.1998C>A | p.Ala666= | synonymous_variant | 17/27 | ENST00000297494.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOS3 | ENST00000297494.8 | c.1998C>A | p.Ala666= | synonymous_variant | 17/27 | 1 | NM_000603.5 | P1 | |
NOS3 | ENST00000461406.5 | c.1380C>A | p.Ala460= | synonymous_variant | 14/24 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152044Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250728Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135618
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461484Hom.: 0 Cov.: 40 AF XY: 0.00000138 AC XY: 1AN XY: 727056
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152044Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74248
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at