chrX-153541537-G-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_001001344.3(ATP2B3):c.387G>T(p.Pro129Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000141 in 1,209,491 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. 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_001001344.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000897 AC: 1AN: 111523Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 33731
GnomAD4 exome AF: 0.0000146 AC: 16AN: 1097968Hom.: 0 Cov.: 32 AF XY: 0.00000826 AC XY: 3AN XY: 363392
GnomAD4 genome AF: 0.00000897 AC: 1AN: 111523Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 33731
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at