1-162154450-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014697.3(NOS1AP):c.151A>G(p.Ile51Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014697.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NOS1AP | NM_014697.3 | c.151A>G | p.Ile51Val | missense_variant | Exon 2 of 10 | ENST00000361897.10 | NP_055512.1 | |
NOS1AP | NM_001164757.2 | c.151A>G | p.Ile51Val | missense_variant | Exon 2 of 10 | NP_001158229.1 | ||
LOC105371475 | XR_007066697.1 | n.486+13832T>C | intron_variant | Intron 3 of 3 | ||||
LOC105371475 | XR_007066699.1 | n.486+13832T>C | intron_variant | Intron 3 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOS1AP | ENST00000361897.10 | c.151A>G | p.Ile51Val | missense_variant | Exon 2 of 10 | 1 | NM_014697.3 | ENSP00000355133.5 | ||
NOS1AP | ENST00000530878.5 | c.151A>G | p.Ile51Val | missense_variant | Exon 2 of 10 | 1 | ENSP00000431586.1 | |||
NOS1AP | ENST00000430120.3 | n.151A>G | non_coding_transcript_exon_variant | Exon 2 of 11 | 1 | ENSP00000396713.3 | ||||
ENSG00000285636 | ENST00000648032.1 | n.439-6732T>C | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.151A>G (p.I51V) alteration is located in exon 2 (coding exon 2) of the NOS1AP gene. This alteration results from a A to G substitution at nucleotide position 151, causing the isoleucine (I) at amino acid position 51 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.