12-123744756-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012463.4(ATP6V0A2):āc.1486G>Cā(p.Ala496Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A496T) has been classified as Likely benign.
Frequency
Consequence
NM_012463.4 missense
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATP6V0A2 | NM_012463.4 | c.1486G>C | p.Ala496Pro | missense_variant | Exon 12 of 20 | ENST00000330342.8 | NP_036595.2 | |
ATP6V0A2 | XM_024448910.2 | c.1486G>C | p.Ala496Pro | missense_variant | Exon 12 of 19 | XP_024304678.1 | ||
ATP6V0A2 | XM_024448911.2 | c.973G>C | p.Ala325Pro | missense_variant | Exon 8 of 16 | XP_024304679.1 | ||
ATP6V0A2 | XM_024448912.2 | c.664G>C | p.Ala222Pro | missense_variant | Exon 5 of 13 | XP_024304680.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461892Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727248
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.