rs6427504
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_144699.4(ATP1A4):c.248G>A(p.Gly83Asp) variant causes a missense change. The variant allele was found at a frequency of 0.708 in 1,612,916 control chromosomes in the GnomAD database, including 405,201 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_144699.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATP1A4 | NM_144699.4 | c.248G>A | p.Gly83Asp | missense_variant | 3/22 | ENST00000368081.9 | |
ATP1A4 | XM_011509582.2 | c.71G>A | p.Gly24Asp | missense_variant | 2/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP1A4 | ENST00000368081.9 | c.248G>A | p.Gly83Asp | missense_variant | 3/22 | 1 | NM_144699.4 | P1 | |
ATP1A4 | ENST00000477338.5 | c.248G>A | p.Gly83Asp | missense_variant, NMD_transcript_variant | 3/22 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.722 AC: 109577AN: 151708Hom.: 39705 Cov.: 30
GnomAD3 exomes AF: 0.697 AC: 175081AN: 251294Hom.: 61182 AF XY: 0.695 AC XY: 94416AN XY: 135838
GnomAD4 exome AF: 0.707 AC: 1032523AN: 1461090Hom.: 365457 Cov.: 53 AF XY: 0.706 AC XY: 513057AN XY: 726878
GnomAD4 genome ? AF: 0.722 AC: 109675AN: 151826Hom.: 39744 Cov.: 30 AF XY: 0.720 AC XY: 53423AN XY: 74170
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at