1-160130547-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP7
The NM_000702.4(ATP1A2):c.1777C>A(p.Arg593=) 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. R593R) has been classified as Likely benign.
Frequency
Consequence
NM_000702.4 synonymous
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 | UniProt |
---|---|---|---|---|---|---|---|
ATP1A2 | NM_000702.4 | c.1777C>A | p.Arg593= | synonymous_variant | 13/23 | ENST00000361216.8 | |
ATP1A2 | XM_047421286.1 | c.886C>A | p.Arg296= | synonymous_variant | 6/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP1A2 | ENST00000361216.8 | c.1777C>A | p.Arg593= | synonymous_variant | 13/23 | 1 | NM_000702.4 | P1 | |
ATP1A2 | ENST00000392233.7 | c.1777C>A | p.Arg593= | synonymous_variant | 13/23 | 5 | |||
ATP1A2 | ENST00000447527.1 | c.910C>A | p.Arg304= | synonymous_variant | 6/16 | 2 | |||
ATP1A2 | ENST00000472488.5 | n.1880C>A | non_coding_transcript_exon_variant | 13/20 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.