chr8-53715981-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015941.4(ATP6V1H):c.1435G>T(p.Ala479Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000747 in 1,607,384 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. 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. A479T) has been classified as Uncertain significance.
Frequency
Consequence
NM_015941.4 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 |
---|---|---|---|---|---|---|---|---|
ATP6V1H | NM_015941.4 | c.1435G>T | p.Ala479Ser | missense_variant | Exon 14 of 14 | ENST00000359530.7 | NP_057025.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152124Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000423 AC: 1AN: 236590Hom.: 0 AF XY: 0.00000784 AC XY: 1AN XY: 127550
GnomAD4 exome AF: 0.00000550 AC: 8AN: 1455260Hom.: 0 Cov.: 30 AF XY: 0.00000553 AC XY: 4AN XY: 723038
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152124Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1435G>T (p.A479S) alteration is located in exon 14 (coding exon 13) of the ATP6V1H gene. This alteration results from a G to T substitution at nucleotide position 1435, causing the alanine (A) at amino acid position 479 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at