2-74527768-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_181575.5(AUP1):c.809G>A(p.Arg270Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000514 in 1,613,762 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_181575.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AUP1 | NM_181575.5 | c.809G>A | p.Arg270Gln | missense_variant | Exon 8 of 12 | ENST00000377526.4 | NP_853553.1 | |
AUP1 | NR_126510.2 | n.886G>A | non_coding_transcript_exon_variant | Exon 8 of 12 | ||||
AUP1 | NR_126511.2 | n.1082G>A | non_coding_transcript_exon_variant | Exon 7 of 11 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151916Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249478Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135362
GnomAD4 exome AF: 0.0000540 AC: 79AN: 1461846Hom.: 0 Cov.: 35 AF XY: 0.0000564 AC XY: 41AN XY: 727226
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151916Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74176
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.809G>A (p.R270Q) alteration is located in exon 8 (coding exon 8) of the AUP1 gene. This alteration results from a G to A substitution at nucleotide position 809, causing the arginine (R) at amino acid position 270 to be replaced by a glutamine (Q). 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