rs1060063
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005765.3(ATP6AP2):c.*809T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.145 in 111,842 control chromosomes in the GnomAD database, including 2,279 homozygotes. There are 4,610 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005765.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATP6AP2 | NM_005765.3 | c.*809T>C | 3_prime_UTR_variant | 9/9 | ENST00000636580.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP6AP2 | ENST00000636580.2 | c.*809T>C | 3_prime_UTR_variant | 9/9 | 1 | NM_005765.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.145 AC: 16158AN: 111789Hom.: 2279 Cov.: 23 AF XY: 0.135 AC XY: 4587AN XY: 33999
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 302Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 130
GnomAD4 genome ? AF: 0.145 AC: 16180AN: 111842Hom.: 2279 Cov.: 23 AF XY: 0.135 AC XY: 4610AN XY: 34062
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at