1-43975066-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004047.5(ATP6V0B):āc.26C>Gā(p.Ser9Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,399,468 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004047.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATP6V0B | NM_004047.5 | c.26C>G | p.Ser9Cys | missense_variant | 1/8 | ENST00000472174.7 | |
ATP6V0B | NM_001294333.2 | c.26C>G | p.Ser9Cys | missense_variant | 1/7 | ||
ATP6V0B | NM_001039457.3 | c.-67C>G | 5_prime_UTR_variant | 1/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP6V0B | ENST00000472174.7 | c.26C>G | p.Ser9Cys | missense_variant | 1/8 | 1 | NM_004047.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 33
GnomAD4 exome AF: 8.02e-7 AC: 1AN: 1247216Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 605444
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.26C>G (p.S9C) alteration is located in exon 1 (coding exon 1) of the ATP6V0B gene. This alteration results from a C to G substitution at nucleotide position 26, causing the serine (S) at amino acid position 9 to be replaced by a cysteine (C). 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