rs2957518
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_024662.3(NAT10):c.1686C>G(p.Pro562=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P562P) has been classified as Benign.
Frequency
Consequence
NM_024662.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NAT10 | NM_024662.3 | c.1686C>G | p.Pro562= | synonymous_variant | 16/29 | ENST00000257829.8 | |
NAT10 | NM_001144030.2 | c.1470C>G | p.Pro490= | synonymous_variant | 14/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NAT10 | ENST00000257829.8 | c.1686C>G | p.Pro562= | synonymous_variant | 16/29 | 1 | NM_024662.3 | P1 | |
NAT10 | ENST00000531159.6 | c.1470C>G | p.Pro490= | synonymous_variant | 14/27 | 2 | |||
NAT10 | ENST00000527971.5 | c.781-13012C>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 53
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at