chr7-150993921-C-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000603.5(NOS3):c.118C>A(p.Arg40Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000028 in 1,428,664 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_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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NOS3 | NM_000603.5 | c.118C>A | p.Arg40Arg | synonymous_variant | Exon 2 of 27 | ENST00000297494.8 | NP_000594.2 | |
NOS3 | NM_001160111.1 | c.118C>A | p.Arg40Arg | synonymous_variant | Exon 1 of 14 | NP_001153583.1 | ||
NOS3 | NM_001160110.1 | c.118C>A | p.Arg40Arg | synonymous_variant | Exon 1 of 14 | NP_001153582.1 | ||
NOS3 | NM_001160109.2 | c.118C>A | p.Arg40Arg | synonymous_variant | Exon 1 of 14 | NP_001153581.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOS3 | ENST00000297494.8 | c.118C>A | p.Arg40Arg | synonymous_variant | Exon 2 of 27 | 1 | NM_000603.5 | ENSP00000297494.3 | ||
NOS3 | ENST00000484524.5 | c.118C>A | p.Arg40Arg | synonymous_variant | Exon 1 of 14 | 1 | ENSP00000420215.1 | |||
NOS3 | ENST00000467517.1 | c.118C>A | p.Arg40Arg | synonymous_variant | Exon 1 of 14 | 1 | ENSP00000420551.1 | |||
NOS3 | ENST00000461406.5 | c.-148-1282C>A | intron_variant | Intron 1 of 23 | 2 | ENSP00000417143.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000280 AC: 4AN: 1428664Hom.: 0 Cov.: 31 AF XY: 0.00000282 AC XY: 2AN XY: 708210
GnomAD4 genome Cov.: 33
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.