7-150999023-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000603.5(NOS3):āc.894T>Gā(p.Asp298Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.7 in 1,612,084 control chromosomes in the GnomAD database, including 399,768 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_000603.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOS3 | NM_000603.5 | c.894T>G | p.Asp298Glu | missense_variant | 8/27 | ENST00000297494.8 | |
NOS3 | NM_001160111.1 | c.894T>G | p.Asp298Glu | missense_variant | 7/14 | ||
NOS3 | NM_001160110.1 | c.894T>G | p.Asp298Glu | missense_variant | 7/14 | ||
NOS3 | NM_001160109.2 | c.894T>G | p.Asp298Glu | missense_variant | 7/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOS3 | ENST00000297494.8 | c.894T>G | p.Asp298Glu | missense_variant | 8/27 | 1 | NM_000603.5 | P1 | |
NOS3 | ENST00000484524.5 | c.894T>G | p.Asp298Glu | missense_variant | 7/14 | 1 | |||
NOS3 | ENST00000467517.1 | c.894T>G | p.Asp298Glu | missense_variant | 7/14 | 1 | |||
NOS3 | ENST00000461406.5 | c.276T>G | p.Asp92Glu | missense_variant | 5/24 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.755 AC: 114696AN: 151842Hom.: 44151 Cov.: 30
GnomAD3 exomes AF: 0.751 AC: 187223AN: 249394Hom.: 71390 AF XY: 0.745 AC XY: 100872AN XY: 135440
GnomAD4 exome AF: 0.694 AC: 1013298AN: 1460126Hom.: 355554 Cov.: 63 AF XY: 0.697 AC XY: 506539AN XY: 726378
GnomAD4 genome ? AF: 0.756 AC: 114817AN: 151958Hom.: 44214 Cov.: 30 AF XY: 0.758 AC XY: 56247AN XY: 74240
ClinVar
Submissions by phenotype
Hypertension resistant to conventional therapy Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Apr 01, 2007 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, variant associated with coronary artery spasm, alzheimers, hypertension, stroke, heart disease - |
Ischemic stroke;C1863052:Alzheimer disease type 1;C5574918:Preeclampsia/eclampsia 1;CN305331:Essential hypertension, genetic Benign:1
Benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Sep 22, 2021 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | This variant is associated with the following publications: (PMID: 19435423, 21706163, 25095657, 20467051, 20854685, 19364839, 19158254, 21607713, 19560472, 17919260, 25937798, 20083095, 21816783, 17449720, 22025889, 19531501, 21919778, 21320716, 22561696, 21406182, 19929133, 19373110, 20691505, 23342892, 11823442, 23922896, 19804474, 20103956, 18815450, 18629615, 19087148, 20367485, 20193212, 22940147, 20049477, 23594558, 19773668, 9737779, 10451235, 11354626) - |
Ischemic stroke Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Apr 01, 2007 | - - |
Alzheimer disease, late-onset, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Apr 01, 2007 | - - |
Ischemic heart disease, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Apr 01, 2007 | - - |
Hypertension, pregnancy-induced, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Apr 01, 2007 | - - |
Coronary artery spasm 1, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Apr 01, 2007 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at