rs796052202
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014697.3(NOS1AP):c.824C>T(p.Ser275Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,708 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NOS1AP | NM_014697.3 | c.824C>T | p.Ser275Phe | missense_variant | 8/10 | ENST00000361897.10 | NP_055512.1 | |
NOS1AP | NM_001164757.2 | c.809C>T | p.Ser270Phe | missense_variant | 8/10 | NP_001158229.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOS1AP | ENST00000361897.10 | c.824C>T | p.Ser275Phe | missense_variant | 8/10 | 1 | NM_014697.3 | ENSP00000355133.5 | ||
NOS1AP | ENST00000530878.5 | c.809C>T | p.Ser270Phe | missense_variant | 8/10 | 1 | ENSP00000431586.1 | |||
NOS1AP | ENST00000430120.3 | n.809C>T | non_coding_transcript_exon_variant | 8/11 | 1 | ENSP00000396713.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461708Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727164
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Long QT syndrome Uncertain:1
Uncertain significance, no assertion criteria provided | research | Medical Research Institute, Tokyo Medical and Dental University | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at