1-111460974-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001688.5(ATP5PB):c.751C>G(p.Gln251Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000868 in 1,612,634 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001688.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATP5PB | ENST00000369722.8 | c.751C>G | p.Gln251Glu | missense_variant | Exon 7 of 7 | 1 | NM_001688.5 | ENSP00000358737.3 | ||
ATP5PB | ENST00000483994.1 | c.568C>G | p.Gln190Glu | missense_variant | Exon 5 of 5 | 2 | ENSP00000420366.1 | |||
ATP5PB | ENST00000369721.8 | n.682C>G | non_coding_transcript_exon_variant | Exon 6 of 6 | 2 | |||||
ATP5PB | ENST00000468818.1 | n.521C>G | non_coding_transcript_exon_variant | Exon 6 of 6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152230Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250790Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135550
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1460286Hom.: 0 Cov.: 30 AF XY: 0.00000826 AC XY: 6AN XY: 726456
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152348Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.751C>G (p.Q251E) alteration is located in exon 7 (coding exon 7) of the ATP5F1 gene. This alteration results from a C to G substitution at nucleotide position 751, causing the glutamine (Q) at amino acid position 251 to be replaced by a glutamic acid (E). 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