17-44005780-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_153006.3(NAGS):c.570G>T(p.Trp190Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000695 in 1,438,460 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_153006.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NAGS | NM_153006.3 | c.570G>T | p.Trp190Cys | missense_variant | 2/7 | ENST00000293404.8 | |
NAGS | XM_011524438.2 | c.570G>T | p.Trp190Cys | missense_variant | 2/6 | ||
NAGS | XM_011524439.2 | c.72G>T | p.Trp24Cys | missense_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NAGS | ENST00000293404.8 | c.570G>T | p.Trp190Cys | missense_variant | 2/7 | 1 | NM_153006.3 | P1 | |
NAGS | ENST00000589767.1 | c.477G>T | p.Trp159Cys | missense_variant | 2/7 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000963 AC: 2AN: 207578Hom.: 0 AF XY: 0.00000891 AC XY: 1AN XY: 112178
GnomAD4 exome AF: 6.95e-7 AC: 1AN: 1438460Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 713432
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at