7-150996468-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000603.5(NOS3):c.335G>T(p.Arg112Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. R112Q) has been classified as Benign.
Frequency
Consequence
NM_000603.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOS3 | NM_000603.5 | c.335G>T | p.Arg112Leu | missense_variant | 4/27 | ENST00000297494.8 | |
NOS3 | NM_001160111.1 | c.335G>T | p.Arg112Leu | missense_variant | 3/14 | ||
NOS3 | NM_001160110.1 | c.335G>T | p.Arg112Leu | missense_variant | 3/14 | ||
NOS3 | NM_001160109.2 | c.335G>T | p.Arg112Leu | missense_variant | 3/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOS3 | ENST00000297494.8 | c.335G>T | p.Arg112Leu | missense_variant | 4/27 | 1 | NM_000603.5 | P1 | |
NOS3 | ENST00000484524.5 | c.335G>T | p.Arg112Leu | missense_variant | 3/14 | 1 | |||
NOS3 | ENST00000467517.1 | c.335G>T | p.Arg112Leu | missense_variant | 3/14 | 1 | |||
NOS3 | ENST00000461406.5 | c.-37+1154G>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 26
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 26
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at