NM_001690.4:c.88A>G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001690.4(ATP6V1A):c.88A>G(p.Thr30Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000436 in 1,606,414 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T30I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001690.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATP6V1A | NM_001690.4 | c.88A>G | p.Thr30Ala | missense_variant | Exon 3 of 15 | ENST00000273398.8 | NP_001681.2 | |
ATP6V1A | XM_047448305.1 | c.88A>G | p.Thr30Ala | missense_variant | Exon 3 of 15 | XP_047304261.1 | ||
ATP6V1A | XM_047448306.1 | c.88A>G | p.Thr30Ala | missense_variant | Exon 4 of 16 | XP_047304262.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000164 AC: 4AN: 244060Hom.: 0 AF XY: 0.0000303 AC XY: 4AN XY: 132088
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1454232Hom.: 0 Cov.: 30 AF XY: 0.00000553 AC XY: 4AN XY: 723556
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74338
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at