1-162287361-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014697.3(NOS1AP):āc.195G>Cā(p.Lys65Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000616 in 1,459,922 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOS1AP | ENST00000361897.10 | c.195G>C | p.Lys65Asn | missense_variant | Exon 3 of 10 | 1 | NM_014697.3 | ENSP00000355133.5 | ||
NOS1AP | ENST00000530878.5 | c.195G>C | p.Lys65Asn | missense_variant | Exon 3 of 10 | 1 | ENSP00000431586.1 | |||
NOS1AP | ENST00000430120.3 | n.195G>C | non_coding_transcript_exon_variant | Exon 3 of 11 | 1 | ENSP00000396713.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251460Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135900
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1459922Hom.: 0 Cov.: 29 AF XY: 0.00000688 AC XY: 5AN XY: 726518
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.195G>C (p.K65N) alteration is located in exon 3 (coding exon 3) of the NOS1AP gene. This alteration results from a G to C substitution at nucleotide position 195, causing the lysine (K) at amino acid position 65 to be replaced by an asparagine (N). 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