1-162070223-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014697.3(NOS1AP):c.46C>G(p.Leu16Val) 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. 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOS1AP | ENST00000361897.10 | c.46C>G | p.Leu16Val | missense_variant | Exon 1 of 10 | 1 | NM_014697.3 | ENSP00000355133.5 | ||
NOS1AP | ENST00000530878.5 | c.46C>G | p.Leu16Val | missense_variant | Exon 1 of 10 | 1 | ENSP00000431586.1 | |||
NOS1AP | ENST00000430120.3 | n.46C>G | non_coding_transcript_exon_variant | Exon 1 of 11 | 1 | ENSP00000396713.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.46C>G (p.L16V) alteration is located in exon 1 (coding exon 1) of the NOS1AP gene. This alteration results from a C to G substitution at nucleotide position 46, causing the leucine (L) at amino acid position 16 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